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<meta name="keywords" content="C3808991, alacrimia, choreoathetosis, liver dysfunction syndrome, alacrimia-choreoathetosis-liver dysfunction syndrome, cddg, cddg1, cdg1v, formerly, congenital disorder of deglycosylation, congenital disorder of deglycosylation 1, congenital disorder of glycosylation, type iv, congenital disorder of glycosylation, type iv, formerly, deficiency of n-glycanase 1, disease or syndrome, n-glycanase 1 congenital disorder of deglycosylation, ngly1 deficiency, ngly1-congenital disorder of deglycosylation, 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="Individuals with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a clinical tetrad of developmental delay / intellectual disability in the mild to profound range, hypo- or alacrima, elevated liver transaminases that may spontaneously resolve in childhood, and a complex hyperkinetic movement disorder that can include choreiform, athetoid, dystonic, myoclonic, action tremor, and dysmetric movements. About half of affected individuals will develop clinical seizures. Other findings may include obstructive and/or central sleep apnea, oral motor defects that affect feeding ability, auditory neuropathy, constipation, scoliosis, and peripheral neuropathy." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=815321
|
||
ConceptID=C3808991
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital disorder of deglycosylation<span class="h1sub">(CDDG)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815321</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.">C3808991</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>CDDG</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>NGLY1-congenital disorder of deglycosylation (768846004); Alacrimia, choreoathetosis, liver dysfunction syndrome (768846004); Deficiency of N-glycanase 1 (768846004); N-glycanase 1 congenital disorder of deglycosylation (768846004)</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/55768">NGLY1</a>, <a target="_blank" href="/gene/4123">MAN2C1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0031376" target="_blank">MONDO:0031376</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/610661" target="_blank">610661</a>; <a href="https://omim.org/entry/615273" target="_blank">615273</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS615273" target="_blank">PS615273</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK481554" target="_blank">NGLY1-Related Congenital Disorder of Deglycosylation</a></div><div>Individuals with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a clinical tetrad of developmental delay / intellectual disability in the mild to profound range, hypo- or alacrima, elevated liver transaminases that may spontaneously resolve in childhood, and a complex hyperkinetic movement disorder that can include choreiform, athetoid, dystonic, myoclonic, action tremor, and dysmetric movements. About half of affected individuals will develop clinical seizures. Other findings may include obstructive and/or central sleep apnea, oral motor defects that affect feeding ability, auditory neuropathy, constipation, scoliosis, and peripheral neuropathy. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK481554#ngly1-cddg.Summary" target="NBK481554">Summary</a> | <a class="medgenPMinfo" href="/books/NBK481554#ngly1-cddg.Diagnosis" target="NBK481554">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK481554#ngly1-cddg.Clinical_Characteristics" target="NBK481554">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK481554#ngly1-cddg.Genetically_Related_Allelic_D" target="NBK481554">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK481554#ngly1-cddg.Differential_Diagnosis" target="NBK481554">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK481554#ngly1-cddg.Management" target="NBK481554">Management</a> | <a class="medgenPMinfo" href="/books/NBK481554#ngly1-cddg.Genetic_Counseling" target="NBK481554">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK481554#ngly1-cddg.Resources" target="NBK481554">Resources</a> | <a class="medgenPMinfo" href="/books/NBK481554#ngly1-cddg.Molecular_Genetics" target="NBK481554">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK481554#ngly1-cddg.References" target="NBK481554">References</a> | <a class="medgenPMinfo" href="/books/NBK481554#ngly1-cddg.Chapter_Notes" target="NBK481554">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Christina Lam | Lynne Wolfe | Anna Need<i>, et. al.</i> <a href="/books/NBK481554" target="NBK481554" title="NCBI Bookshelf: NGLY1-Related Congenital Disorder of Deglycosylation">view full author information</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />NGLY1-congenital disorder of deglycosylation (NGLY1-CDDG) is an inherited condition that affects many parts of the body. The severity of the signs and symptoms varies widely among people with the condition.<br /><br />Individuals with NGLY1-CDDG typically develop features of the condition during infancy. They often have delayed development of speech and motor skills, such as sitting and walking, and weak muscle tone (hypotonia). Many affected individuals have movement abnormalities, such as uncontrolled movements of the limbs (choreoathetosis), and some develop seizures that are difficult to treat. Individuals with NGLY1-CDDG may also have problems with liver function. Some affected individuals have eye abnormalities, including degeneration of the nerves that carry information from the eyes to the brain (optic atrophy) and changes in the light-sensing tissue at the back of the eye (the retina). A reduction or absence of tears (hypolacrima or alacrima) is a common feature of NGLY1-CDDG. <a target="_blank" href="https://medlineplus.gov/genetics/condition/ngly1-congenital-disorder-of-deglycosylation">https://medlineplus.gov/genetics/condition/ngly1-congenital-disorder-of-deglycosylation</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><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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0282577[DISCUI]&test_type=Clinical" ref="ncbi_uid=76469">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=76469">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=76469" ref="ncbi_uid=76469">V</a></span></span><span class="TLline"><a href="/medgen/76469" ref="tree=GTR&ncbi_uid=76469&link_uid=76469" title="View MedGen record for 'Congenital disorder of glycosylation'">Congenital disorder of glycosylation</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931005[DISCUI]&test_type=Clinical" ref="ncbi_uid=419308">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419308" target="_blank" href="/omim/605907">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=419308">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419308" ref="ncbi_uid=419308">V</a></span></span><span class="TLline"><a href="/medgen/419308" ref="tree=GTR&ncbi_uid=419308&link_uid=419308" title="View MedGen record for 'ALG1-congenital disorder of glycosylation'">ALG1-congenital disorder of glycosylation</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=C3150913[DISCUI]&test_type=Clinical" ref="ncbi_uid=462263">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462263" target="_blank" href="/omim/613661">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=462263">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462263" ref="ncbi_uid=462263">V</a></span></span><span class="TLline"><a href="/medgen/462263" ref="tree=GTR&ncbi_uid=462263&link_uid=462263" title="View MedGen record for 'ALG11-congenital disorder of glycosylation'">ALG11-congenital disorder of glycosylation</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=C2931001[DISCUI]&test_type=Clinical" ref="ncbi_uid=443954">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=443954" target="_blank" href="/omim/607143">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=443954">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=443954" ref="ncbi_uid=443954">V</a></span></span><span class="TLline"><a href="/medgen/443954" ref="tree=GTR&ncbi_uid=443954&link_uid=443954" title="View MedGen record for 'ALG12-congenital disorder of glycosylation'">ALG12-congenital disorder of glycosylation</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=C1842836[DISCUI]&test_type=Clinical" ref="ncbi_uid=334618">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334618" target="_blank" href="/omim/607905">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=334618">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334618" ref="ncbi_uid=334618">V</a></span></span><span class="TLline"><a href="/medgen/334618" ref="tree=GTR&ncbi_uid=334618&link_uid=334618" title="View MedGen record for 'ALG2-congenital disorder of glycosylation'">ALG2-congenital disorder of glycosylation</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=C1832736[DISCUI]&test_type=Clinical" ref="ncbi_uid=322026">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322026" target="_blank" href="/omim/601110">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=322026">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322026" ref="ncbi_uid=322026">V</a></span></span><span class="TLline"><a href="/medgen/322026" ref="tree=GTR&ncbi_uid=322026&link_uid=322026" title="View MedGen record for 'ALG3-congenital disorder of glycosylation'">ALG3-congenital disorder of glycosylation</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=C2930997[DISCUI]&test_type=Clinical" ref="ncbi_uid=443952">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=443952" target="_blank" href="/omim/603147">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=443952">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=443952" ref="ncbi_uid=443952">V</a></span></span><span class="TLline"><a href="/medgen/443952" ref="tree=GTR&ncbi_uid=443952&link_uid=443952" title="View MedGen record for 'ALG6-congenital disorder of glycosylation 1C'">ALG6-congenital disorder of glycosylation 1C</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=C2931002[DISCUI]&test_type=Clinical" ref="ncbi_uid=419692">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419692" target="_blank" href="/omim/608103">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=419692">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419692" ref="ncbi_uid=419692">V</a></span></span><span class="TLline"><a href="/medgen/419692" ref="tree=GTR&ncbi_uid=419692&link_uid=419692" title="View MedGen record for 'ALG8 congenital disorder of glycosylation'">ALG8 congenital disorder of glycosylation</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=C2931006[DISCUI]&test_type=Clinical" ref="ncbi_uid=443955">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=443955" target="_blank" href="/omim/606941">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=443955">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=443955" ref="ncbi_uid=443955">V</a></span></span><span class="TLline"><a href="/medgen/443955" ref="tree=GTR&ncbi_uid=443955&link_uid=443955" title="View MedGen record for 'ALG9 congenital disorder of glycosylation'">ALG9 congenital disorder of glycosylation</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=C2931009[DISCUI]&test_type=Clinical" ref="ncbi_uid=419310">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419310" target="_blank" href="/omim/137060">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=419310">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419310" ref="ncbi_uid=419310">V</a></span></span><span class="TLline"><a href="/medgen/419310" ref="tree=GTR&ncbi_uid=419310&link_uid=419310" title="View MedGen record for 'B4GALT1-congenital disorder of glycosylation'">B4GALT1-congenital disorder of glycosylation</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=C2931011[DISCUI]&test_type=Clinical" ref="ncbi_uid=443957">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=443957" target="_blank" href="/omim/606973">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=443957">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=443957" ref="ncbi_uid=443957">V</a></span></span><span class="TLline"><a href="/medgen/443957" ref="tree=GTR&ncbi_uid=443957&link_uid=443957" title="View MedGen record for 'COG1 congenital disorder of glycosylation'">COG1 congenital disorder of glycosylation</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=C4303552[DISCUI]&test_type=Clinical" ref="ncbi_uid=929221">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=929221" target="_blank" href="/omim/606976">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=929221">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=929221" ref="ncbi_uid=929221">V</a></span></span><span class="TLline"><a href="/medgen/929221" ref="tree=GTR&ncbi_uid=929221&link_uid=929221" title="View MedGen record for 'COG4-congenital disorder of glycosylation'">COG4-congenital disorder of glycosylation</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=C3150876[DISCUI]&test_type=Clinical" ref="ncbi_uid=462226">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462226" target="_blank" href="/omim/606821">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=462226">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462226" ref="ncbi_uid=462226">V</a></span></span><span class="TLline"><a href="/medgen/462226" ref="tree=GTR&ncbi_uid=462226&link_uid=462226" title="View MedGen record for 'COG5-congenital disorder of glycosylation'">COG5-congenital disorder of glycosylation</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=C3553230[DISCUI]&test_type=Clinical" ref="ncbi_uid=766144">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766144" target="_blank" href="/omim/606977">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=766144" ref="ncbi_uid=766144">V</a></span></span><span class="TLline"><a href="/medgen/766144" ref="tree=GTR&ncbi_uid=766144&link_uid=766144" title="View MedGen record for 'COG6-congenital disorder of glycosylation'">COG6-congenital disorder of glycosylation</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=C2931010[DISCUI]&test_type=Clinical" ref="ncbi_uid=419311">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419311" target="_blank" href="/omim/606978">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=419311">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419311" ref="ncbi_uid=419311">V</a></span></span><span class="TLline"><a href="/medgen/419311" ref="tree=GTR&ncbi_uid=419311&link_uid=419311" title="View MedGen record for 'COG7 congenital disorder of glycosylation'">COG7 congenital disorder of glycosylation</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=C1970021[DISCUI]&test_type=Clinical" ref="ncbi_uid=409971">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=409971" target="_blank" href="/omim/606979">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=409971">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=409971" ref="ncbi_uid=409971">V</a></span></span><span class="TLline"><a href="/medgen/409971" ref="tree=GTR&ncbi_uid=409971&link_uid=409971" title="View MedGen record for 'COG8-congenital disorder of glycosylation'">COG8-congenital disorder of glycosylation</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3808991[DISCUI]&test_type=Clinical" ref="ncbi_uid=815321">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815321" target="_blank" href="/omim/610661">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK481554/" ref="ncbi_uid=815321">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815321" ref="ncbi_uid=815321">V</a></span></span><span class="TLline">Congenital disorder of deglycosylation</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN306977[DISCUI]&test_type=Clinical" ref="ncbi_uid=989503">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK481554/" ref="ncbi_uid=989503">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=989503" ref="ncbi_uid=989503">V</a></span></span><span class="TLline"><a href="/medgen/989503" ref="tree=GTR&ncbi_uid=989503&link_uid=989503" title="View MedGen record for 'Congenital disorder of deglycosylation 1'">Congenital disorder of deglycosylation 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1809253" target="_blank" href="/omim/154580">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=1809253" ref="ncbi_uid=1809253">V</a></span></span><span class="TLline"><a href="/medgen/1809253" ref="tree=GTR&ncbi_uid=1809253&link_uid=1809253" title="View MedGen record for 'Congenital disorder of deglycosylation 2'">Congenital disorder of deglycosylation 2</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837396[DISCUI]&test_type=Clinical" ref="ncbi_uid=324784">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324784" target="_blank" href="/omim/603503">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=324784" ref="ncbi_uid=324784">V</a></span></span><span class="TLline"><a href="/medgen/324784" ref="tree=GTR&ncbi_uid=324784&link_uid=324784" title="View MedGen record for 'Congenital disorder of glycosylation type 1E'">Congenital disorder of glycosylation type 1E</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=C5190603[DISCUI]&test_type=Clinical" ref="ncbi_uid=1682844">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1682844" target="_blank" href="/omim/603564">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=1682844">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1682844" ref="ncbi_uid=1682844">V</a></span></span><span class="TLline"><a href="/medgen/1682844" ref="tree=GTR&ncbi_uid=1682844&link_uid=1682844" title="View MedGen record for 'Congenital muscular dystrophy with intellectual disability and severe epilepsy'">Congenital muscular dystrophy with intellectual disability and severe epilepsy</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=C4317295[DISCUI]&test_type=Clinical" ref="ncbi_uid=1382656">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1382656" target="_blank" href="/omim/300776">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=1382656" ref="ncbi_uid=1382656">V</a></span></span><span class="TLline"><a href="/medgen/1382656" ref="tree=GTR&ncbi_uid=1382656&link_uid=1382656" title="View MedGen record for 'Developmental and epileptic encephalopathy, 36'">Developmental and epileptic encephalopathy, 36</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=C1835849[DISCUI]&test_type=Clinical" ref="ncbi_uid=332072">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332072" target="_blank" href="/omim/610746">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=332072">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=332072" ref="ncbi_uid=332072">V</a></span></span><span class="TLline"><a href="/medgen/332072" ref="tree=GTR&ncbi_uid=332072&link_uid=332072" title="View MedGen record for 'DK1-congenital disorder of glycosylation'">DK1-congenital disorder of glycosylation</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=C2931004[DISCUI]&test_type=Clinical" ref="ncbi_uid=419694">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419694" target="_blank" href="/omim/191350">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=419694">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419694" ref="ncbi_uid=419694">V</a></span></span><span class="TLline"><a href="/medgen/419694" ref="tree=GTR&ncbi_uid=419694&link_uid=419694" title="View MedGen record for 'DPAGT1-congenital disorder of glycosylation'">DPAGT1-congenital disorder of glycosylation</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=C2752007[DISCUI]&test_type=Clinical" ref="ncbi_uid=414534">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414534" target="_blank" href="/omim/605951">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=414534">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414534" ref="ncbi_uid=414534">V</a></span></span><span class="TLline"><a href="/medgen/414534" ref="tree=GTR&ncbi_uid=414534&link_uid=414534" title="View MedGen record for 'DPM3-congenital disorder of glycosylation'">DPM3-congenital disorder of glycosylation</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=C0398739[DISCUI]&test_type=Clinical" ref="ncbi_uid=96022">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=96022" target="_blank" href="/omim/266265">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=96022">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=96022" ref="ncbi_uid=96022">V</a></span></span><span class="TLline"><a href="/medgen/96022" ref="tree=GTR&ncbi_uid=96022&link_uid=96022" title="View MedGen record for 'Leukocyte adhesion deficiency type II'">Leukocyte adhesion deficiency type II</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=C2931008[DISCUI]&test_type=Clinical" ref="ncbi_uid=443956">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=443956" target="_blank" href="/omim/212066">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=443956">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=443956" ref="ncbi_uid=443956">V</a></span></span><span class="TLline"><a href="/medgen/443956" ref="tree=GTR&ncbi_uid=443956&link_uid=443956" title="View MedGen record for 'MGAT2-congenital disorder of glycosylation'">MGAT2-congenital disorder of glycosylation</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=C1853736[DISCUI]&test_type=Clinical" ref="ncbi_uid=342954">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342954" target="_blank" href="/omim/601336">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=342954">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=342954" ref="ncbi_uid=342954">V</a></span></span><span class="TLline"><a href="/medgen/342954" ref="tree=GTR&ncbi_uid=342954&link_uid=342954" title="View MedGen record for 'MOGS-congenital disorder of glycosylation'">MOGS-congenital disorder of glycosylation</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=C1836669[DISCUI]&test_type=Clinical" ref="ncbi_uid=322968">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322968" target="_blank" href="/omim/604041">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=322968" ref="ncbi_uid=322968">V</a></span></span><span class="TLline"><a href="/medgen/322968" ref="tree=GTR&ncbi_uid=322968&link_uid=322968" title="View MedGen record for 'MPDU1-congenital disorder of glycosylation'">MPDU1-congenital disorder of glycosylation</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=C1865145[DISCUI]&test_type=Clinical" ref="ncbi_uid=400692">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400692" target="_blank" href="/omim/154550">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=400692">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=400692" ref="ncbi_uid=400692">V</a></span></span><span class="TLline"><a href="/medgen/400692" ref="tree=GTR&ncbi_uid=400692&link_uid=400692" title="View MedGen record for 'MPI-congenital disorder of glycosylation'">MPI-congenital disorder of glycosylation</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=C2752015[DISCUI]&test_type=Clinical" ref="ncbi_uid=414536">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414536" target="_blank" href="/omim/171900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=414536">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414536" ref="ncbi_uid=414536">V</a></span></span><span class="TLline"><a href="/medgen/414536" ref="tree=GTR&ncbi_uid=414536&link_uid=414536" title="View MedGen record for 'PGM1-congenital disorder of glycosylation'">PGM1-congenital disorder of glycosylation</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=C0349653[DISCUI]&test_type=Clinical" ref="ncbi_uid=138111">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=138111" target="_blank" href="/omim/212065">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1110%20OR%20NBK1332)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=138111">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=138111" ref="ncbi_uid=138111">V</a></span></span><span class="TLline"><a href="/medgen/138111" ref="tree=GTR&ncbi_uid=138111&link_uid=138111" title="View MedGen record for 'PMM2-congenital disorder of glycosylation'">PMM2-congenital disorder of glycosylation</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=C2677590[DISCUI]&test_type=Clinical" ref="ncbi_uid=383145">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=383145" target="_blank" href="/omim/611908">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=383145">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=383145" ref="ncbi_uid=383145">V</a></span></span><span class="TLline"><a href="/medgen/383145" ref="tree=GTR&ncbi_uid=383145&link_uid=383145" title="View MedGen record for 'RFT1-congenital disorder of glycosylation'">RFT1-congenital disorder of glycosylation</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=C1970344[DISCUI]&test_type=Clinical" ref="ncbi_uid=370234">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370234" target="_blank" href="/omim/603585">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=370234">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370234" ref="ncbi_uid=370234">V</a></span></span><span class="TLline"><a href="/medgen/370234" ref="tree=GTR&ncbi_uid=370234&link_uid=370234" title="View MedGen record for 'SLC35A1-congenital disorder of glycosylation'">SLC35A1-congenital disorder of glycosylation</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=C4317224[DISCUI]&test_type=Clinical" ref="ncbi_uid=1392124">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1392124" target="_blank" href="/omim/611715">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=1392124">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1392124" ref="ncbi_uid=1392124">V</a></span></span><span class="TLline"><a href="/medgen/1392124" ref="tree=GTR&ncbi_uid=1392124&link_uid=1392124" title="View MedGen record for 'SRD5A3-congenital disorder of glycosylation'">SRD5A3-congenital disorder of glycosylation</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/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/44376" ref="tree=MeSH" title="MedGen record for Metabolic disease">Metabolic disease</a></span><ul><li><span class="TLline"><a href="/medgen/472889" ref="tree=MeSH" title="MedGen record for Carbohydrate metabolism disease">Carbohydrate metabolism disease</a></span><ul><li><span class="TLline"><a href="/medgen/76469" ref="tree=MeSH" title="MedGen record for Congenital disorder of glycosylation">Congenital disorder of glycosylation</a></span><ul><li><span class="matched_ds">Congenital disorder of deglycosylation</span><ul><li><span class="TLline"><a href="/medgen/989503" ref="tree=MeSH" title="MedGen record for Congenital disorder of deglycosylation 1">Congenital disorder of deglycosylation 1</a></span></li><li><span class="TLline"><a href="/medgen/1809253" ref="tree=MeSH" title="MedGen record for Congenital disorder of deglycosylation 2">Congenital disorder of deglycosylation 2</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></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=22923&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Congenital disorder of deglycosylation</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/35962997">How do genetic tests answer questions about neurodevelopmental differences? A sociological take.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Navon D</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2022 Dec;64(12):1462-1469.
|
||
Epub 2022 Aug 13
|
||
doi: 10.1111/dmcn.15376.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35962997" target="_blank">35962997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28512024">Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bi Y,
|
||
Might M,
|
||
Vankayalapati H,
|
||
Kuberan B</span><br />
|
||
<span class="medgenPMjournal">Bioorg Med Chem Lett</span>
|
||
2017 Jul 1;27(13):2962-2966.
|
||
Epub 2017 May 5
|
||
doi: 10.1016/j.bmcl.2017.05.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28512024" target="_blank">28512024</a><a href="/pmc/articles/PMC5548696" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20disorder%20of%20deglycosylation)%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/38070824">Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sonoda Y,
|
||
Fujita A,
|
||
Torio M,
|
||
Mukaino T,
|
||
Sakata A,
|
||
Matsukura M,
|
||
Yonemoto K,
|
||
Hatae K,
|
||
Ichimiya Y,
|
||
Chong PF,
|
||
Ochiai M,
|
||
Wada Y,
|
||
Kadoya M,
|
||
Okamoto N,
|
||
Murakami Y,
|
||
Suzuki T,
|
||
Isobe N,
|
||
Shigeto H,
|
||
Matsumoto N,
|
||
Sakai Y,
|
||
Ohga S</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2024 Feb;67:104895.
|
||
Epub 2023 Dec 7
|
||
doi: 10.1016/j.ejmg.2023.104895.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38070824" target="_blank">38070824</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20disorder%20of%20deglycosylation%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 (1)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39206713">Development of new NGLY1 assay systems - toward developing an early screening method for NGLY1 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hirayama H,
|
||
Fujihira H,
|
||
Suzuki T</span><br />
|
||
<span class="medgenPMjournal">Glycobiology</span>
|
||
2024 Sep 30;34(11)
|
||
doi: 10.1093/glycob/cwae067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39206713" target="_blank">39206713</a><a href="/pmc/articles/PMC11442003" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36752951">Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hagemeijer MC,
|
||
van den Bosch JC,
|
||
Bongaerts M,
|
||
Jacobs EH,
|
||
van den Hout JMP,
|
||
Oussoren E,
|
||
Ruijter GJG</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 Mar;46(2):206-219.
|
||
Epub 2023 Feb 28
|
||
doi: 10.1002/jimd.12597.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36752951" target="_blank">36752951</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32429657">Liver involvement in NGLY1 congenital disorder of deglycosylation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lipiński P,
|
||
Cielecka-Kuszyk J,
|
||
Socha P,
|
||
Tylki-Szymańska A</span><br />
|
||
<span class="medgenPMjournal">Pol J Pathol</span>
|
||
2020;71(1):66-68.
|
||
doi: 10.5114/pjp.2020.92994.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32429657" target="_blank">32429657</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31311714">Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haijes HA,
|
||
de Sain-van der Velden MGM,
|
||
Prinsen HCMT,
|
||
Willems AP,
|
||
van der Ham M,
|
||
Gerrits J,
|
||
Couse MH,
|
||
Friedman JM,
|
||
van Karnebeek CDM,
|
||
Selby KA,
|
||
van Hasselt PM,
|
||
Verhoeven-Duif NM,
|
||
Jans JJM</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2019 Aug;127(4):368-372.
|
||
Epub 2019 Jul 9
|
||
doi: 10.1016/j.ymgme.2019.07.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31311714" target="_blank">31311714</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20disorder%20of%20deglycosylation%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38070824">Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sonoda Y,
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Fujita A,
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Torio M,
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Mukaino T,
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Sakata A,
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Matsukura M,
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Yonemoto K,
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Hatae K,
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Ichimiya Y,
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Chong PF,
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Ochiai M,
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Wada Y,
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Kadoya M,
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Okamoto N,
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Murakami Y,
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Suzuki T,
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Isobe N,
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Shigeto H,
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Matsumoto N,
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Sakai Y,
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Ohga S</span><br />
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<span class="medgenPMjournal">Eur J Med Genet</span>
|
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2024 Feb;67:104895.
|
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Epub 2023 Dec 7
|
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doi: 10.1016/j.ejmg.2023.104895.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38070824" target="_blank">38070824</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36528660">NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stanclift CR,
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Dwight SS,
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Lee K,
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Eijkenboom QL,
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Wilsey M,
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Wilsey K,
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Kobayashi ES,
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Tong S,
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2022 Dec 17;17(1):440.
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doi: 10.1186/s13023-022-02592-3.
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<span class="bold">PMID: </span><a href="/pubmed/36528660" target="_blank">36528660</a><a href="/pmc/articles/PMC9759919" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34293745">Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zidoune H,
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Martinerie L,
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Tan DS,
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Askari M,
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Rezgoune D,
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Ladjouze A,
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Boukri A,
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Benelmadani Y,
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Sifi K,
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Abadi N,
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Satta D,
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Rastari M,
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Seresht-Ahmadi M,
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Bignon-Topalovic J,
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Mazen I,
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Leger J,
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Simon D,
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Brauner R,
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Totonchi M,
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Jauch R,
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Bashamboo A,
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McElreavey K</span><br />
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<span class="medgenPMjournal">Sex Dev</span>
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2021;15(4):244-252.
|
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Epub 2021 Jul 22
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doi: 10.1159/000515924.
|
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<span class="bold">PMID: </span><a href="/pubmed/34293745" target="_blank">34293745</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32422350">Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rios-Flores IM,
|
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Bonal-Pérez MÁ,
|
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Castellanos-González A,
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Velez-Gómez E,
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Bertoli-Avella AM,
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Bobadilla-Morales L,
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Peña-Padilla C,
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Appendini-Andrade V,
|
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Corona-Rivera A,
|
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Romero-Valenzuela I,
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Corona-Rivera JR</span><br />
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<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2020 Aug;63(8):103952.
|
||
Epub 2020 May 15
|
||
doi: 10.1016/j.ejmg.2020.103952.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32422350" target="_blank">32422350</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27388694">Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lam C,
|
||
Ferreira C,
|
||
Krasnewich D,
|
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Toro C,
|
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Latham L,
|
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Zein WM,
|
||
Lehky T,
|
||
Brewer C,
|
||
Baker EH,
|
||
Thurm A,
|
||
Farmer CA,
|
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Rosenzweig SD,
|
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Lyons JJ,
|
||
Schreiber JM,
|
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Gropman A,
|
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Lingala S,
|
||
Ghany MG,
|
||
Solomon B,
|
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Macnamara E,
|
||
Davids M,
|
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Stratakis CA,
|
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Kimonis V,
|
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Gahl WA,
|
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Wolfe L</span><br />
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<span class="medgenPMjournal">Genet Med</span>
|
||
2017 Feb;19(2):160-168.
|
||
Epub 2016 Jul 7
|
||
doi: 10.1038/gim.2016.75.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27388694" target="_blank">27388694</a><a href="/pmc/articles/PMC7477955" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20disorder%20of%20deglycosylation%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38070824">Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sonoda Y,
|
||
Fujita A,
|
||
Torio M,
|
||
Mukaino T,
|
||
Sakata A,
|
||
Matsukura M,
|
||
Yonemoto K,
|
||
Hatae K,
|
||
Ichimiya Y,
|
||
Chong PF,
|
||
Ochiai M,
|
||
Wada Y,
|
||
Kadoya M,
|
||
Okamoto N,
|
||
Murakami Y,
|
||
Suzuki T,
|
||
Isobe N,
|
||
Shigeto H,
|
||
Matsumoto N,
|
||
Sakai Y,
|
||
Ohga S</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2024 Feb;67:104895.
|
||
Epub 2023 Dec 7
|
||
doi: 10.1016/j.ejmg.2023.104895.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38070824" target="_blank">38070824</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36752951">Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hagemeijer MC,
|
||
van den Bosch JC,
|
||
Bongaerts M,
|
||
Jacobs EH,
|
||
van den Hout JMP,
|
||
Oussoren E,
|
||
Ruijter GJG</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 Mar;46(2):206-219.
|
||
Epub 2023 Feb 28
|
||
doi: 10.1002/jimd.12597.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36752951" target="_blank">36752951</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36102038">N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Budhraja R,
|
||
Saraswat M,
|
||
De Graef D,
|
||
Ranatunga W,
|
||
Ramarajan MG,
|
||
Mousa J,
|
||
Kozicz T,
|
||
Pandey A,
|
||
Morava E</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 Jan;46(1):76-91.
|
||
Epub 2022 Oct 4
|
||
doi: 10.1002/jimd.12557.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36102038" target="_blank">36102038</a><a href="/pmc/articles/PMC10092224" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31311714">Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haijes HA,
|
||
de Sain-van der Velden MGM,
|
||
Prinsen HCMT,
|
||
Willems AP,
|
||
van der Ham M,
|
||
Gerrits J,
|
||
Couse MH,
|
||
Friedman JM,
|
||
van Karnebeek CDM,
|
||
Selby KA,
|
||
van Hasselt PM,
|
||
Verhoeven-Duif NM,
|
||
Jans JJM</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2019 Aug;127(4):368-372.
|
||
Epub 2019 Jul 9
|
||
doi: 10.1016/j.ymgme.2019.07.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31311714" target="_blank">31311714</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27388694">Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lam C,
|
||
Ferreira C,
|
||
Krasnewich D,
|
||
Toro C,
|
||
Latham L,
|
||
Zein WM,
|
||
Lehky T,
|
||
Brewer C,
|
||
Baker EH,
|
||
Thurm A,
|
||
Farmer CA,
|
||
Rosenzweig SD,
|
||
Lyons JJ,
|
||
Schreiber JM,
|
||
Gropman A,
|
||
Lingala S,
|
||
Ghany MG,
|
||
Solomon B,
|
||
Macnamara E,
|
||
Davids M,
|
||
Stratakis CA,
|
||
Kimonis V,
|
||
Gahl WA,
|
||
Wolfe L</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2017 Feb;19(2):160-168.
|
||
Epub 2016 Jul 7
|
||
doi: 10.1038/gim.2016.75.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27388694" target="_blank">27388694</a><a href="/pmc/articles/PMC7477955" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20disorder%20of%20deglycosylation%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 (9)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
<div class=" bottom">
|
||
|
||
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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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<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=C3808991%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C3808991%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C3808991%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C3808991%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3808991%5bDISCUI%5d" target="_blank">See all (25)</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/PS615273" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Congenital%20disorder%20of%20deglycosylation" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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=(congenital%20disorder%20of%20deglycosylation)%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://www.malacards.org/card/congenital_disorder_of_deglycosylation_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Congenital%20disorder%20of%20deglycosylation" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/ngly1-congenital-disorder-of-deglycosylation" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
|
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