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<meta name="keywords" content="C4693704, disease or syndrome, efl1, sds2, shwachman-diamond syndrome 2, 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=1634617
|
||
ConceptID=C4693704
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Shwachman-Diamond syndrome 2<span class="h1sub">(SDS2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634617</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.">C4693704</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>SDS2; SHWACHMAN-DIAMOND SYNDROME 2</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">Gene (location):<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="EFL1 - ID: 79631 - NCBI Gene" href="/gene/79631" class="medgenPMinfo">EFL1</a> (15q25.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0044205" target="_blank">MONDO:0044205</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617941" target="_blank">617941</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/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-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).
|
||
For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (260400). <a target="_blank" href="http://www.omim.org/entry/617941">http://www.omim.org/entry/617941</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_154257"><div><strong>Genu varum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154257</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.">C0544755</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154257">Feature record</a> | <a href="/medgen?term=%22Genu%20varum%22%5BClinical%20Features%5D%20OR%20154257%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8360"><div><strong>Diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8360</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.">C0011991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8360">Feature record</a> | <a href="/medgen?term=%22Diarrhea%22%5BClinical%20Features%5D%20OR%208360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</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.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20948"><div><strong>Steatorrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20948</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.">C0038238</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20948">Feature record</a> | <a href="/medgen?term=%22Steatorrhea%22%5BClinical%20Features%5D%20OR%2020948%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75647"><div><strong>Exocrine pancreatic insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75647</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.">C0267963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75647">Feature record</a> | <a href="/medgen?term=%22Exocrine%20pancreatic%20insufficiency%22%5BClinical%20Features%5D%20OR%2075647%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347581"><div><strong>Hyperechogenic pancreas</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347581</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.">C1857945</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347581">Feature record</a> | <a href="/medgen?term=%22Hyperechogenic%20pancreas%22%5BClinical%20Features%5D%20OR%20347581%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</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.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52737"><div><strong>Thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52737</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.">C0040034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the number of circulating thrombocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52737">Feature record</a> | <a href="/medgen?term=%22Thrombocytopenia%22%5BClinical%20Features%5D%20OR%2052737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39310"><div><strong>Normocytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39310</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.">C0085577</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A kind of anemia in which the volume of the red blood cells is normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39310">Feature record</a> | <a href="/medgen?term=%22Normocytic%20anemia%22%5BClinical%20Features%5D%20OR%2039310%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66815"><div><strong>Prolonged partial thromboplastin time</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66815</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.">C0240671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66815">Feature record</a> | <a href="/medgen?term=%22Prolonged%20partial%20thromboplastin%20time%22%5BClinical%20Features%5D%20OR%2066815%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_208879"><div><strong>Prolonged prothrombin time</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208879</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.">C0853225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208879">Feature record</a> | <a href="/medgen?term=%22Prolonged%20prothrombin%20time%22%5BClinical%20Features%5D%20OR%20208879%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_325478"><div><strong>Metaphyseal irregularity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325478</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.">C1838662</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Irregularity of the normally smooth surface of the metaphyses.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325478">Feature record</a> | <a href="/medgen?term=%22Metaphyseal%20irregularity%22%5BClinical%20Features%5D%20OR%20325478%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337520"><div><strong>Anterior rib cupping</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337520</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.">C1846154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wide, concave anterior rib end.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337520">Feature record</a> | <a href="/medgen?term=%22Anterior%20rib%20cupping%22%5BClinical%20Features%5D%20OR%20337520%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341364"><div><strong>Metaphyseal widening</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341364</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.">C1849039</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal widening of the metaphyseal regions of long bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341364">Feature record</a> | <a href="/medgen?term=%22Metaphyseal%20widening%22%5BClinical%20Features%5D%20OR%20341364%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68668"><div><strong>Subglottic stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68668</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.">C0238441</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68668">Feature record</a> | <a href="/medgen?term=%22Subglottic%20stenosis%22%5BClinical%20Features%5D%20OR%2068668%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120500"><div><strong>Congenital laryngomalacia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120500</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.">C0264303</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120500">Feature record</a> | <a href="/medgen?term=%22Congenital%20laryngomalacia%22%5BClinical%20Features%5D%20OR%20120500%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65998"><div><strong>Recurrent infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65998</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.">C0239998</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65998">Feature record</a> | <a href="/medgen?term=%22Recurrent%20infections%22%5BClinical%20Features%5D%20OR%2065998%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163121"><div><strong>Neutropenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163121</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.">C0853697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally low number of neutrophils in the peripheral blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163121">Feature record</a> | <a href="/medgen?term=%22Neutropenia%22%5BClinical%20Features%5D%20OR%20163121%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</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.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78759"><div><strong>High myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78759</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.">C0271183</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe form of myopia with greater than -6.00 diopters.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78759">Feature record</a> | <a href="/medgen?term=%22High%20myopia%22%5BClinical%20Features%5D%20OR%2078759%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Normocytic anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66815" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged partial thromboplastin time</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_208879" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged prothrombin time</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Genu varum</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75647" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exocrine pancreatic insufficiency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347581" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperechogenic pancreas</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Steatorrhea</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78759" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High myopia</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163121" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neutropenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65998" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent infections</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337520" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anterior rib cupping</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_325478" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal irregularity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal widening</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120500" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital laryngomalacia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68668" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subglottic stenosis</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li></ul></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></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=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"><a href="/medgen/124418" ref="tree=GTR&ncbi_uid=124418&link_uid=124418" title="View MedGen record for 'Shwachman syndrome'">Shwachman syndrome</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=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="matched_ds"><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">Shwachman-Diamond syndrome 2</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/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="TLline"><a href="/medgen/124418" ref="tree=MeSH" title="MedGen record for Shwachman syndrome">Shwachman syndrome</a></span><ul><li><span class="matched_ds">Shwachman-Diamond syndrome 2</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31808891">Monitoring and treatment of MDS in genetically susceptible persons.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davies SM</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2019 Dec 6;2019(1):105-109.
|
||
doi: 10.1182/hematology.2019000020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31808891" target="_blank">31808891</a><a href="/pmc/articles/PMC6913506" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21595885">Congenital neutropenia: diagnosis, molecular bases and patient management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donadieu J,
|
||
Fenneteau O,
|
||
Beaupain B,
|
||
Mahlaoui N,
|
||
Chantelot CB</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 May 19;6:26.
|
||
doi: 10.1186/1750-1172-6-26.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21595885" target="_blank">21595885</a><a href="/pmc/articles/PMC3127744" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19327581">Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burroughs L,
|
||
Woolfrey A,
|
||
Shimamura A</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
2009 Apr;23(2):233-48.
|
||
doi: 10.1016/j.hoc.2009.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19327581" target="_blank">19327581</a><a href="/pmc/articles/PMC2754297" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(shwachman-diamond%20syndrome%202)%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 (3)</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/35322185">Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson AS,
|
||
Giri N,
|
||
Gianferante DM,
|
||
Jones K,
|
||
Savage SA,
|
||
Alter BP,
|
||
McReynolds LJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2022 Dec;92(6):1671-1680.
|
||
Epub 2022 Mar 23
|
||
doi: 10.1038/s41390-022-02009-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35322185" target="_blank">35322185</a><a href="/pmc/articles/PMC9500118" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31203998">Hereditary myeloid malignancies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rafei H,
|
||
DiNardo CD</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Haematol</span>
|
||
2019 Jun;32(2):163-176.
|
||
Epub 2019 May 3
|
||
doi: 10.1016/j.beha.2019.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31203998" target="_blank">31203998</a><a href="/pmc/articles/PMC10246934" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30413969">Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bezzerri V,
|
||
Cipolli M</span><br />
|
||
<span class="medgenPMjournal">Mol Diagn Ther</span>
|
||
2019 Apr;23(2):281-290.
|
||
doi: 10.1007/s40291-018-0368-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30413969" target="_blank">30413969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28177873">Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindsley RC,
|
||
Saber W,
|
||
Mar BG,
|
||
Redd R,
|
||
Wang T,
|
||
Haagenson MD,
|
||
Grauman PV,
|
||
Hu ZH,
|
||
Spellman SR,
|
||
Lee SJ,
|
||
Verneris MR,
|
||
Hsu K,
|
||
Fleischhauer K,
|
||
Cutler C,
|
||
Antin JH,
|
||
Neuberg D,
|
||
Ebert BL</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2017 Feb 9;376(6):536-547.
|
||
doi: 10.1056/NEJMoa1611604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28177873" target="_blank">28177873</a><a href="/pmc/articles/PMC5438571" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22201042">Shwachman-Diamond syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dall'oca C,
|
||
Bondi M,
|
||
Merlini M,
|
||
Cipolli M,
|
||
Lavini F,
|
||
Bartolozzi P</span><br />
|
||
<span class="medgenPMjournal">Musculoskelet Surg</span>
|
||
2012 Aug;96(2):81-8.
|
||
Epub 2011 Dec 27
|
||
doi: 10.1007/s12306-011-0174-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22201042" target="_blank">22201042</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Shwachman-Diamond%20syndrome%202%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 (64)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35322185">Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson AS,
|
||
Giri N,
|
||
Gianferante DM,
|
||
Jones K,
|
||
Savage SA,
|
||
Alter BP,
|
||
McReynolds LJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2022 Dec;92(6):1671-1680.
|
||
Epub 2022 Mar 23
|
||
doi: 10.1038/s41390-022-02009-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35322185" target="_blank">35322185</a><a href="/pmc/articles/PMC9500118" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31203998">Hereditary myeloid malignancies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rafei H,
|
||
DiNardo CD</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Haematol</span>
|
||
2019 Jun;32(2):163-176.
|
||
Epub 2019 May 3
|
||
doi: 10.1016/j.beha.2019.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31203998" target="_blank">31203998</a><a href="/pmc/articles/PMC10246934" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30413969">Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bezzerri V,
|
||
Cipolli M</span><br />
|
||
<span class="medgenPMjournal">Mol Diagn Ther</span>
|
||
2019 Apr;23(2):281-290.
|
||
doi: 10.1007/s40291-018-0368-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30413969" target="_blank">30413969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18832544">Shwachman-Diamond syndrome presenting as hypoglycemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albrecht LA,
|
||
Gorges SW,
|
||
Styne DM,
|
||
Bremer AA</span><br />
|
||
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
|
||
2009 Mar;48(2):212-4.
|
||
Epub 2008 Oct 2
|
||
doi: 10.1177/0009922808323114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18832544" target="_blank">18832544</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12183725">Shwachman-Diamond syndrome: report from an international conference.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rothbaum R,
|
||
Perrault J,
|
||
Vlachos A,
|
||
Cipolli M,
|
||
Alter BP,
|
||
Burroughs S,
|
||
Durie P,
|
||
Elghetany MT,
|
||
Grand R,
|
||
Hubbard V,
|
||
Rommens J,
|
||
Rossi T</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2002 Aug;141(2):266-70.
|
||
doi: 10.1067/mpd.2002.125850.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12183725" target="_blank">12183725</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Shwachman-Diamond%20syndrome%202%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 (60)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35322185">Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson AS,
|
||
Giri N,
|
||
Gianferante DM,
|
||
Jones K,
|
||
Savage SA,
|
||
Alter BP,
|
||
McReynolds LJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2022 Dec;92(6):1671-1680.
|
||
Epub 2022 Mar 23
|
||
doi: 10.1038/s41390-022-02009-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35322185" target="_blank">35322185</a><a href="/pmc/articles/PMC9500118" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33878854">Growth hormone improves short stature in children with Shwachman-Diamond syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bogusz-Wójcik A,
|
||
Kołodziejczyk H,
|
||
Moszczyńska E,
|
||
Klaudel-Dreszler M,
|
||
Oracz G,
|
||
Pawłowska J,
|
||
Szalecki M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Diabetes Metab</span>
|
||
2021;27(2):87-92.
|
||
doi: 10.5114/pedm.2021.105298.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33878854" target="_blank">33878854</a><a href="/pmc/articles/PMC10214953" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31879230">Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Myers KC,
|
||
Furutani E,
|
||
Weller E,
|
||
Siegele B,
|
||
Galvin A,
|
||
Arsenault V,
|
||
Alter BP,
|
||
Boulad F,
|
||
Bueso-Ramos C,
|
||
Burroughs L,
|
||
Castillo P,
|
||
Connelly J,
|
||
Davies SM,
|
||
DiNardo CD,
|
||
Hanif I,
|
||
Ho RH,
|
||
Karras N,
|
||
Manalang M,
|
||
McReynolds LJ,
|
||
Nakano TA,
|
||
Nalepa G,
|
||
Norkin M,
|
||
Oberley MJ,
|
||
Orgel E,
|
||
Pastore YD,
|
||
Rosenthal J,
|
||
Walkovich K,
|
||
Larson J,
|
||
Malsch M,
|
||
Elghetany MT,
|
||
Fleming MD,
|
||
Shimamura A</span><br />
|
||
<span class="medgenPMjournal">Lancet Haematol</span>
|
||
2020 Mar;7(3):e238-e246.
|
||
Epub 2019 Dec 23
|
||
doi: 10.1016/S2352-3026(19)30206-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31879230" target="_blank">31879230</a><a href="/pmc/articles/PMC7984274" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25659730">Genetic predisposition syndromes: when should they be considered in the work-up of MDS?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Babushok DV,
|
||
Bessler M</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Haematol</span>
|
||
2015 Mar;28(1):55-68.
|
||
Epub 2014 Nov 12
|
||
doi: 10.1016/j.beha.2014.11.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25659730" target="_blank">25659730</a><a href="/pmc/articles/PMC4323616" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22201042">Shwachman-Diamond syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dall'oca C,
|
||
Bondi M,
|
||
Merlini M,
|
||
Cipolli M,
|
||
Lavini F,
|
||
Bartolozzi P</span><br />
|
||
<span class="medgenPMjournal">Musculoskelet Surg</span>
|
||
2012 Aug;96(2):81-8.
|
||
Epub 2011 Dec 27
|
||
doi: 10.1007/s12306-011-0174-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22201042" target="_blank">22201042</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Shwachman-Diamond%20syndrome%202%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 (24)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32037152">A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cesaro S,
|
||
Pegoraro A,
|
||
Sainati L,
|
||
Lucidi V,
|
||
Montemitro E,
|
||
Corti P,
|
||
Ramenghi U,
|
||
Nasi C,
|
||
Menna G,
|
||
Zecca M,
|
||
Danesino C,
|
||
Nicolis E,
|
||
Pasquali F,
|
||
Perobelli S,
|
||
Tridello G,
|
||
Farruggia P,
|
||
Cipolli M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2020 Apr;219:196-201.e1.
|
||
Epub 2020 Feb 6
|
||
doi: 10.1016/j.jpeds.2019.12.041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32037152" target="_blank">32037152</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31879230">Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Myers KC,
|
||
Furutani E,
|
||
Weller E,
|
||
Siegele B,
|
||
Galvin A,
|
||
Arsenault V,
|
||
Alter BP,
|
||
Boulad F,
|
||
Bueso-Ramos C,
|
||
Burroughs L,
|
||
Castillo P,
|
||
Connelly J,
|
||
Davies SM,
|
||
DiNardo CD,
|
||
Hanif I,
|
||
Ho RH,
|
||
Karras N,
|
||
Manalang M,
|
||
McReynolds LJ,
|
||
Nakano TA,
|
||
Nalepa G,
|
||
Norkin M,
|
||
Oberley MJ,
|
||
Orgel E,
|
||
Pastore YD,
|
||
Rosenthal J,
|
||
Walkovich K,
|
||
Larson J,
|
||
Malsch M,
|
||
Elghetany MT,
|
||
Fleming MD,
|
||
Shimamura A</span><br />
|
||
<span class="medgenPMjournal">Lancet Haematol</span>
|
||
2020 Mar;7(3):e238-e246.
|
||
Epub 2019 Dec 23
|
||
doi: 10.1016/S2352-3026(19)30206-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31879230" target="_blank">31879230</a><a href="/pmc/articles/PMC7984274" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28177873">Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindsley RC,
|
||
Saber W,
|
||
Mar BG,
|
||
Redd R,
|
||
Wang T,
|
||
Haagenson MD,
|
||
Grauman PV,
|
||
Hu ZH,
|
||
Spellman SR,
|
||
Lee SJ,
|
||
Verneris MR,
|
||
Hsu K,
|
||
Fleischhauer K,
|
||
Cutler C,
|
||
Antin JH,
|
||
Neuberg D,
|
||
Ebert BL</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2017 Feb 9;376(6):536-547.
|
||
doi: 10.1056/NEJMoa1611604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28177873" target="_blank">28177873</a><a href="/pmc/articles/PMC5438571" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24629175">Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakaya T,
|
||
Kurata A,
|
||
Hashimoto H,
|
||
Nishimata S,
|
||
Kashiwagi Y,
|
||
Fujita K,
|
||
Kawashima H,
|
||
Kuroda M</span><br />
|
||
<span class="medgenPMjournal">Pathol Int</span>
|
||
2014 Feb;64(2):75-80.
|
||
doi: 10.1111/pin.12133.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24629175" target="_blank">24629175</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8759887">Haematological abnormalities in Shwachman-Diamond syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith OP,
|
||
Hann IM,
|
||
Chessells JM,
|
||
Reeves BR,
|
||
Milla P</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
1996 Aug;94(2):279-84.
|
||
doi: 10.1046/j.1365-2141.1996.d01-1788.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8759887" target="_blank">8759887</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Shwachman-Diamond%20syndrome%202%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 (29)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/40021961">Constitutive systemic inflammation in Shwachman-Diamond Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sabbioni G,
|
||
D'Aversa E,
|
||
Breveglieri G,
|
||
Altieri MT,
|
||
Boni C,
|
||
Pegoraro A,
|
||
Finotti A,
|
||
Gambari R,
|
||
D'Amico G,
|
||
Vella A,
|
||
Lippi G,
|
||
Cipolli M,
|
||
Bezzerri V,
|
||
Borgatti M</span><br />
|
||
<span class="medgenPMjournal">Mol Med</span>
|
||
2025 Feb 28;31(1):81.
|
||
doi: 10.1186/s10020-025-01133-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/40021961" target="_blank">40021961</a><a href="/pmc/articles/PMC11869671" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35322185">Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson AS,
|
||
Giri N,
|
||
Gianferante DM,
|
||
Jones K,
|
||
Savage SA,
|
||
Alter BP,
|
||
McReynolds LJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2022 Dec;92(6):1671-1680.
|
||
Epub 2022 Mar 23
|
||
doi: 10.1038/s41390-022-02009-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35322185" target="_blank">35322185</a><a href="/pmc/articles/PMC9500118" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33878854">Growth hormone improves short stature in children with Shwachman-Diamond syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bogusz-Wójcik A,
|
||
Kołodziejczyk H,
|
||
Moszczyńska E,
|
||
Klaudel-Dreszler M,
|
||
Oracz G,
|
||
Pawłowska J,
|
||
Szalecki M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Diabetes Metab</span>
|
||
2021;27(2):87-92.
|
||
doi: 10.5114/pedm.2021.105298.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33878854" target="_blank">33878854</a><a href="/pmc/articles/PMC10214953" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33046118">Somatic development in children with Shwachman-Diamond syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bogusz-Wójcik A,
|
||
Kołodziejczyk H,
|
||
Klaudel-Dreszler M,
|
||
Oracz G,
|
||
Pawłowska J,
|
||
Szalecki M</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2020 Oct 12;46(1):151.
|
||
doi: 10.1186/s13052-020-00919-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33046118" target="_blank">33046118</a><a href="/pmc/articles/PMC7552354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28177873">Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindsley RC,
|
||
Saber W,
|
||
Mar BG,
|
||
Redd R,
|
||
Wang T,
|
||
Haagenson MD,
|
||
Grauman PV,
|
||
Hu ZH,
|
||
Spellman SR,
|
||
Lee SJ,
|
||
Verneris MR,
|
||
Hsu K,
|
||
Fleischhauer K,
|
||
Cutler C,
|
||
Antin JH,
|
||
Neuberg D,
|
||
Ebert BL</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2017 Feb 9;376(6):536-547.
|
||
doi: 10.1056/NEJMoa1611604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28177873" target="_blank">28177873</a><a href="/pmc/articles/PMC5438571" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Shwachman-Diamond%20syndrome%202%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 (31)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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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_content ln"><ul><li><a href="/gtr/tests?term=C4693704%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C4693704%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C4693704%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4693704%5bDISCUI%5d" target="_blank">See all (16)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=617941" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Shwachman-Diamond%20syndrome%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(shwachman-diamond%20syndrome%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d5595e84f3725e59431c33">Shwachman-Diamond syndrome 2</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d55946cde49f3df7ec2b55">Table 8. [Pathogenic Variants Referenced in This GeneReview by Gene]. - GeneRevi...</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d55944cde49f3df7ec2381">Table B. [OMIM Entries for Shwachman-Diamond Syndrome (View All in OMIM)]. - Gen...</a>
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<div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for Shwachman-Diamond Syndrome (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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