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<meta name="keywords" content="C0272170, congenital lipomatosis of pancreas, disease or syndrome, dnajc21, lipomatosis of pancreas, congenital, metaphyseal chondrodysplasia with pancreatic insufficiency and neutropenia, metaphyseal chondrodysplasia, shwachman type, metaphyseal dysplasia with malabsorption and neutropenia, pancreas congenital lipomatoses, pancreas congenital lipomatosis, pancreatic insufficiency and bone marrow dysfunction, sbds, schwachman's syndrome, schwachman-bodian syndrome, schwachman-diamond syndrome, schwachmann-diamond syndrome, sds, shwachman bodian diamond syndrome, shwachman bodian syndrome, shwachman diamond oski syndrome, shwachman diamond syndrome, shwachman syndrome, shwachman's syndrome, shwachman-bodian syndrome, shwachman-bodian-diamond syndrome, shwachman-diamond syndrome, shwachman-diamond type metaphyseal dysplasia, shwachman-diamond-oski syndrome, srp54, 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="Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is an early finding. Short stature and recurrent infections are common." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=124418
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ConceptID=C0272170
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Shwachman syndrome<span class="h1sub">(SDS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124418</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.">C0272170</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>LIPOMATOSIS OF PANCREAS, CONGENITAL; PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION; SHWACHMAN-BODIAN SYNDROME; Shwachman-Diamond Syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Shwachman syndrome (89454001); Shwachman-Diamond syndrome (89454001); Metaphyseal chondrodysplasia with pancreatic insufficiency AND neutropenia (89454001); Metaphyseal dysplasia with malabsorption and neutropenia (89454001); Metaphyseal chondrodysplasia, Shwachman type (89454001); Schwachman's syndrome (89454001); Schwachman-Diamond syndrome (89454001); Schwachman-Bodian syndrome (89454001); Shwachman's syndrome (89454001); Congenital lipomatosis of pancreas (89454001); Schwachmann-Diamond syndrome (89454001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="DNAJC21 - ID: 134218 - NCBI Gene" href="/gene/134218" class="medgenPMinfo">DNAJC21</a> (5p13.2); <a target="_blank" title="SBDS - ID: 51119 - NCBI Gene" href="/gene/51119" class="medgenPMinfo">SBDS</a> (7q11.21); <a target="_blank" title="SRP54 - ID: 6729 - NCBI Gene" href="/gene/6729" class="medgenPMinfo">SRP54</a> (14q13.2)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related gene:<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/79631">EFL1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009833" target="_blank">MONDO:0009833</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/260400" target="_blank">260400</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS260400" target="_blank">PS260400</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=811">ORPHA811</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">
|
||
<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/NBK1756" target="_blank">Shwachman-Diamond Syndrome</a></div><div>Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is an early finding. Short stature and recurrent infections are common. [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/NBK1756#sds.Summary" target="NBK1756">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1756#sds.Diagnosis" target="NBK1756">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1756#sds.Clinical_Characteristics" target="NBK1756">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1756#sds.Genetically_Related_Allelic_Disorder" target="NBK1756">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1756#sds.Differential_Diagnosis" target="NBK1756">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1756#sds.Management" target="NBK1756">Management</a> | <a class="medgenPMinfo" href="/books/NBK1756#sds.Genetic_Counseling" target="NBK1756">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1756#sds.Resources" target="NBK1756">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1756#sds.Molecular_Genetics" target="NBK1756">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1756#sds.Chapter_Notes" target="NBK1756">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1756#sds.References" target="NBK1756">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Adam Nelson | Kasiani Myers <a href="/books/NBK1756" target="NBK1756" title="NCBI Bookshelf: Shwachman-Diamond Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Shwachman-Diamond syndrome (SDS) is an autosomal recessive multisystem disorder characterized by exocrine pancreatic dysfunction, bony metaphyseal dysostosis, and varying degrees of marrow dysfunction with cytopenias. Myelodysplastic syndrome and acute myeloid leukemia occur in up to one third of patients (summary by Dror and Freedman, 1999).
|
||
For a review of Shwachman-Diamond syndrome, see Dror and Freedman (2002).
|
||
Genetic Heterogeneity of Shwachman-Diamond Syndrome
|
||
Shwachman-Diamond syndrome-2 (SDS2; 617941) is caused by mutation in the EFL1 gene (617538) on chromosome 15q25. <a target="_blank" href="http://www.omim.org/entry/260400">http://www.omim.org/entry/260400</a></div></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=C0272170[DISCUI]&test_type=Clinical" ref="ncbi_uid=124418">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=124418" target="_blank" href="/omim/260400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1756/" ref="ncbi_uid=124418">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=124418" ref="ncbi_uid=124418">V</a></span></span><span class="TLline">Shwachman 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=C4692625[DISCUI]&test_type=Clinical" ref="ncbi_uid=1640046">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1640046" target="_blank" href="/omim/260400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1756%20OR%20NBK190101)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=1640046">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1640046" ref="ncbi_uid=1640046">V</a></span></span><span class="TLline"><a href="/medgen/1640046" ref="tree=GTR&ncbi_uid=1640046&link_uid=1640046" title="View MedGen record for 'Shwachman-Diamond syndrome 1'">Shwachman-Diamond 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=C4693704[DISCUI]&test_type=Clinical" ref="ncbi_uid=1634617">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1634617" target="_blank" href="/omim/617538">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1756/" ref="ncbi_uid=1634617">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1634617" ref="ncbi_uid=1634617">V</a></span></span><span class="TLline"><a href="/medgen/1634617" ref="tree=GTR&ncbi_uid=1634617&link_uid=1634617" title="View MedGen record for 'Shwachman-Diamond syndrome 2'">Shwachman-Diamond syndrome 2</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/78584" ref="tree=MeSH" title="MedGen record for Abnormality of the digestive system">Abnormality of the digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/867396" ref="tree=MeSH" title="MedGen record for Abnormality of the abdominal organs">Abnormality of the abdominal organs</a></span><ul><li><span class="TLline"><a href="/medgen/892541" ref="tree=MeSH" title="MedGen record for Abnormality of the pancreas">Abnormality of the pancreas</a></span><ul><li><span class="TLline"><a href="/medgen/868647" ref="tree=MeSH" title="MedGen record for Abnormality of pancreas physiology">Abnormality of pancreas physiology</a></span><ul><li><span class="TLline"><a href="/medgen/866753" ref="tree=MeSH" title="MedGen record for Abnormality of exocrine pancreas physiology">Abnormality of exocrine pancreas physiology</a></span><ul><li><span class="TLline"><a href="/medgen/75647" ref="tree=MeSH" title="MedGen record for Exocrine pancreatic insufficiency">Exocrine pancreatic insufficiency</a></span><ul><li><span class="matched_ds">Shwachman syndrome</span><ul><li><span class="TLline"><a href="/medgen/1640046" ref="tree=MeSH" title="MedGen record for Shwachman-Diamond syndrome 1">Shwachman-Diamond syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1634617" ref="tree=MeSH" title="MedGen record for Shwachman-Diamond syndrome 2">Shwachman-Diamond syndrome 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=5536&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Shwachman 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/38589208">Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parisi X,
|
||
Bledsoe JR</span><br />
|
||
<span class="medgenPMjournal">J Clin Pathol</span>
|
||
2024 Aug 16;77(9):586-604.
|
||
doi: 10.1136/jcp-2022-208686.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38589208" target="_blank">38589208</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12110700">Treatment of Shwachman syndrome by Japanese herbal medicine (Juzen-taiho-to): stimulatory effects of its fatty acids on hemopoiesis in patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hisha H,
|
||
Kohdera U,
|
||
Hirayama M,
|
||
Yamada H,
|
||
Iguchi-Uehira T,
|
||
Fan TX,
|
||
Cui YZ,
|
||
Yang GX,
|
||
Li Y,
|
||
Sugiura K,
|
||
Inaba M,
|
||
Kobayashi Y,
|
||
Ikehara S</span><br />
|
||
<span class="medgenPMjournal">Stem Cells</span>
|
||
2002;20(4):311-9.
|
||
doi: 10.1634/stemcells.20-4-311.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12110700" target="_blank">12110700</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22shwachman%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/19148133">The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Minelli A,
|
||
Maserati E,
|
||
Nicolis E,
|
||
Zecca M,
|
||
Sainati L,
|
||
Longoni D,
|
||
Lo Curto F,
|
||
Menna G,
|
||
Poli F,
|
||
De Paoli E,
|
||
Cipolli M,
|
||
Locatelli F,
|
||
Pasquali F,
|
||
Danesino C</span><br />
|
||
<span class="medgenPMjournal">Leukemia</span>
|
||
2009 Apr;23(4):708-11.
|
||
Epub 2009 Jan 15
|
||
doi: 10.1038/leu.2008.369.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19148133" target="_blank">19148133</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10393609">Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ginzberg H,
|
||
Shin J,
|
||
Ellis L,
|
||
Morrison J,
|
||
Ip W,
|
||
Dror Y,
|
||
Freedman M,
|
||
Heitlinger LA,
|
||
Belt MA,
|
||
Corey M,
|
||
Rommens JM,
|
||
Durie PR</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1999 Jul;135(1):81-8.
|
||
doi: 10.1016/s0022-3476(99)70332-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10393609" target="_blank">10393609</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1578303">Correlation of intestinal lactulose permeability with exocrine pancreatic dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mack DR,
|
||
Flick JA,
|
||
Durie PR,
|
||
Rosenstein BJ,
|
||
Ellis LE,
|
||
Perman JA</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1992 May;120(5):696-701.
|
||
doi: 10.1016/s0022-3476(05)80230-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1578303" target="_blank">1578303</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1990988">Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goeteyn M,
|
||
Oranje AP,
|
||
Vuzevski VD,
|
||
de Groot R,
|
||
van Suijlekom-Smit LW</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
1991 Feb;127(2):225-30.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1990988" target="_blank">1990988</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2815856">Malabsorption of flucytosine in a pediatric patient with Shwachman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harper KJ,
|
||
Sawyer WT</span><br />
|
||
<span class="medgenPMjournal">DICP</span>
|
||
1989 Oct;23(10):782-3.
|
||
doi: 10.1177/106002808902301009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2815856" target="_blank">2815856</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Shwachman%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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/12373577">Clinical symptoms and neutropenia: the balance of neutrophil development, functional activity, and cell death.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuijpers TW</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2002 Oct;161 Suppl 1:S75-82.
|
||
Epub 2002 Sep 13
|
||
doi: 10.1007/s00431-002-1009-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12373577" target="_blank">12373577</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11840044">Shwachman syndrome in a preterm newborn associated with transient diabetes mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filippi L,
|
||
Tronchin M,
|
||
Pezzati M,
|
||
Chiti G,
|
||
Dani C,
|
||
Vichi GF,
|
||
Rubaltelli FF</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2002 Feb;34(2):219-23.
|
||
doi: 10.1097/00005176-200202000-00022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11840044" target="_blank">11840044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10393609">Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ginzberg H,
|
||
Shin J,
|
||
Ellis L,
|
||
Morrison J,
|
||
Ip W,
|
||
Dror Y,
|
||
Freedman M,
|
||
Heitlinger LA,
|
||
Belt MA,
|
||
Corey M,
|
||
Rommens JM,
|
||
Durie PR</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1999 Jul;135(1):81-8.
|
||
doi: 10.1016/s0022-3476(99)70332-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10393609" target="_blank">10393609</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8113266">Orthopaedic features of Shwachman syndrome. A report of two cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dhar S,
|
||
Anderton JM</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
1994 Feb;76(2):278-82.
|
||
doi: 10.2106/00004623-199402000-00018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8113266" target="_blank">8113266</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8491914">Shwachman syndrome: CT and MR diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bom EP,
|
||
van der Sande FM,
|
||
Tjon RT,
|
||
Tham A,
|
||
Hillen HF</span><br />
|
||
<span class="medgenPMjournal">J Comput Assist Tomogr</span>
|
||
1993 May-Jun;17(3):474-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8491914" target="_blank">8491914</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Shwachman%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (11)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/11840044">Shwachman syndrome in a preterm newborn associated with transient diabetes mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filippi L,
|
||
Tronchin M,
|
||
Pezzati M,
|
||
Chiti G,
|
||
Dani C,
|
||
Vichi GF,
|
||
Rubaltelli FF</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2002 Feb;34(2):219-23.
|
||
doi: 10.1097/00005176-200202000-00022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11840044" target="_blank">11840044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9208238">Depressed natural killer cell activity due to decreased natural killer cell population in a vitamin E-deficient patient with Shwachman syndrome: reversible natural killer cell abnormality by alpha-tocopherol supplementation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adachi N,
|
||
Migita M,
|
||
Ohta T,
|
||
Higashi A,
|
||
Matsuda I</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1997 Jun;156(6):444-8.
|
||
doi: 10.1007/s004310050634.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9208238" target="_blank">9208238</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2044587">Increased whole blood chemiluminescence in patients with Shwachman syndrome: therapy trial with thiamine and alpha-tocopherol.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ristola M,
|
||
Savilahti E,
|
||
Leirisalo-Repo M,
|
||
Repo H</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1991 Jan;150(3):173-8.
|
||
doi: 10.1007/BF01963560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2044587" target="_blank">2044587</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2815856">Malabsorption of flucytosine in a pediatric patient with Shwachman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harper KJ,
|
||
Sawyer WT</span><br />
|
||
<span class="medgenPMjournal">DICP</span>
|
||
1989 Oct;23(10):782-3.
|
||
doi: 10.1177/106002808902301009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2815856" target="_blank">2815856</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3859614">Prilocaine-induced methemoglobinemia in a child with Shwachman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klos CP,
|
||
Hays GL</span><br />
|
||
<span class="medgenPMjournal">J Oral Maxillofac Surg</span>
|
||
1985 Aug;43(8):621-3.
|
||
doi: 10.1016/0278-2391(85)90133-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3859614" target="_blank">3859614</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Shwachman%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/11840044">Shwachman syndrome in a preterm newborn associated with transient diabetes mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filippi L,
|
||
Tronchin M,
|
||
Pezzati M,
|
||
Chiti G,
|
||
Dani C,
|
||
Vichi GF,
|
||
Rubaltelli FF</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2002 Feb;34(2):219-23.
|
||
doi: 10.1097/00005176-200202000-00022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11840044" target="_blank">11840044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8942739">Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mack DR,
|
||
Forstner GG,
|
||
Wilschanski M,
|
||
Freedman MH,
|
||
Durie PR</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
1996 Dec;111(6):1593-602.
|
||
doi: 10.1016/s0016-5085(96)70022-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8942739" target="_blank">8942739</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1990988">Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goeteyn M,
|
||
Oranje AP,
|
||
Vuzevski VD,
|
||
de Groot R,
|
||
van Suijlekom-Smit LW</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
1991 Feb;127(2):225-30.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1990988" target="_blank">1990988</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Shwachman%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/11063802">Isochromosome (7)(q10) in Shwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maserati E,
|
||
Minelli A,
|
||
Olivieri C,
|
||
Bonvini L,
|
||
Marchi A,
|
||
Bozzola M,
|
||
Danesino C,
|
||
Scappaticci S,
|
||
Pasquali F</span><br />
|
||
<span class="medgenPMjournal">Cancer Genet Cytogenet</span>
|
||
2000 Sep;121(2):167-71.
|
||
doi: 10.1016/s0165-4608(00)00246-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11063802" target="_blank">11063802</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10393609">Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ginzberg H,
|
||
Shin J,
|
||
Ellis L,
|
||
Morrison J,
|
||
Ip W,
|
||
Dror Y,
|
||
Freedman M,
|
||
Heitlinger LA,
|
||
Belt MA,
|
||
Corey M,
|
||
Rommens JM,
|
||
Durie PR</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1999 Jul;135(1):81-8.
|
||
doi: 10.1016/s0022-3476(99)70332-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10393609" target="_blank">10393609</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1702966">Psychological characteristics of children with Shwachman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kent A,
|
||
Murphy GH,
|
||
Milla P</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1990 Dec;65(12):1349-52.
|
||
doi: 10.1136/adc.65.12.1349.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1702966" target="_blank">1702966</a><a href="/pmc/articles/PMC1793082" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7332065">Aplastic anemia associated with the Shwachman syndrome. In vivo and in vitro observations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woods WG,
|
||
Krivit W,
|
||
Lubin BH,
|
||
Ramsay NK</span><br />
|
||
<span class="medgenPMjournal">Am J Pediatr Hematol Oncol</span>
|
||
1981 Winter;3(4):347-51.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7332065" target="_blank">7332065</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Shwachman%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0272170%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C0272170%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0272170%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C0272170%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0272170%5bDISCUI%5d" target="_blank">See all (15)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS260400" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=811" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Shwachman%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22shwachman%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Shwachman%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=604857%20607444%20617048" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6729[geneid]" target="_blank">View SRP54 variations in ClinVar</a></li><li><a href="/clinvar/?term=51119[geneid]" target="_blank">View SBDS variations in ClinVar</a></li><li><a href="/clinvar/?term=134218[geneid]" target="_blank">View DNAJC21 variations in ClinVar</a></li><li><a href="/nuccore/163965402" target="_blank">RefSeqGene</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/shwachman_diamond_syndrome_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Shwachman%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/4863/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301722" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Shwachman%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Shwachman%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=124418" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=124418" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0272170[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0272170[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=124418" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=124418" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=124418" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=124418" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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