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<meta name="keywords" content="C0021847, chronic intestinal pseudo-obstruction., disease or syndrome, hollow visceral myopathy, idiopathic intestinal pseudo-obstruction, idiopathic intestinal pseudo-obstructions, intestinal pseudo obstruction, intestinal pseudo obstruction, idiopathic, intestinal pseudo-obstruction, intestinal pseudo-obstruction, idiopathic, intestinal pseudo-obstructions, intestinal pseudo-obstructions, idiopathic, intestinal pseudoobstruction, intestinal pseudoobstructions, intestine pseudoobstruction, obstruction syndrome, pseudointestinal, pseudo obstruction, intestinal, pseudo-obstruction of intestine, pseudo-obstruction, intestinal, pseudointestinal obstruction syndrome, pseudointestinal obstruction syndromes, pseudoobstruction, intestinal, pseudoobstructive syndrome, pseudoobstructive syndromes, syndrome, pseudointestinal obstruction, syndrome, pseudoobstructive, 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="A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=5864
|
||
ConceptID=C0021847
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intestinal pseudo-obstruction</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5864</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.">C0021847</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Hollow visceral myopathy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Pseudo-obstruction of intestine (235825006)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0004389">HP:0004389</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0002803" target="_blank">MONDO:0002803</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0021847[DISCUI]&test_type=Clinical" ref="ncbi_uid=5864">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=5864" ref="ncbi_uid=5864">V</a></span></span><span class="TLline">Intestinal pseudo-obstruction</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/3828" ref="tree=MeSH" title="MedGen record for Disorder of digestive system">Disorder of digestive system</a></span><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/927601" ref="tree=MeSH" title="MedGen record for Abnormality of digestive system physiology">Abnormality of digestive system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868361" ref="tree=MeSH" title="MedGen record for Functional abnormality of the gastrointestinal tract">Functional abnormality of the gastrointestinal tract</a></span><ul><li><span class="TLline"><a href="/medgen/413550" ref="tree=MeSH" title="MedGen record for Abnormal gastrointestinal motility">Abnormal gastrointestinal motility</a></span><ul><li><span class="TLline"><a href="/medgen/324638" ref="tree=MeSH" title="MedGen record for Gastrointestinal dysmotility">Gastrointestinal dysmotility</a></span><ul><li><span class="matched_ds">Intestinal pseudo-obstruction</span><ul><li><span class="TLline"><a href="/medgen/3167" ref="tree=MeSH" title="MedGen record for Colonic pseudo-obstruction">Colonic pseudo-obstruction</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_7734"><div><strong>Mucopolysaccharidosis, MPS-II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7734</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0026705</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion heterozygous females manifest findings. Age of onset, disease severity, and rate of progression vary significantly among affected males. In those with the neuronopathic phenotype, central nervous system (CNS) involvement (manifesting primarily as progressive cognitive deterioration), progressive airway disease, and cardiac disease usually results in death in the first or second decade of life. In those with the non-neuronopathic phenotype, the CNS is minimally or not affected. However, the effect of GAG accumulation on other organ systems can be severe. Survival into the early adult years with normal intelligence is common in the non-neuronopathic phenotype. Additional findings in neuronopathic and non-neuronopathic MPS II include: short stature, macrocephaly with or without communicating hydrocephalus, macroglossia, hoarse voice, conductive and sensorineural hearing loss, dysostosis multiplex, spinal stenosis, carpal tunnel syndrome, and hepatosplenomegaly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7734">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_167083"><div><strong>Curry-Jones syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167083</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.">C0795915</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Curry-Jones syndrome (CRJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas (summary by Twigg et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167083">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375302"><div><strong>Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375302</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.">C1843851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined before the molecular basis was known. POLG-related disorders can therefore be considered an overlapping spectrum of disease presenting from early childhood to late adulthood. The age of onset broadly correlates with the clinical phenotype. In individuals with early-onset disease (prior to age 12 years), liver involvement, feeding difficulties, seizures, hypotonia, and muscle weakness are the most common clinical features. This group has the worst prognosis. In the juvenile/adult-onset form (age 12-40 years), disease is typically characterized by peripheral neuropathy, ataxia, seizures, stroke-like episodes, and, in individuals with longer survival, progressive external ophthalmoplegia (PEO). This group generally has a better prognosis than the early-onset group. Late-onset disease (after age 40 years) is characterized by ptosis and PEO, with additional features such as peripheral neuropathy, ataxia, and muscle weakness. This group overall has the best prognosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375302">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340946"><div><strong>Visceral neuropathy, familial, 1, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340946</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.">C1855733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive familial visceral neuropathy-1 (VSCN1) is characterized by a broad spectrum of developmental anomalies associating neural crest and extraneural crest features, including intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Some patients develop progressive peripheral neuropathy, and arthrogryposis has been observed. Hypoplasia or aplasia of the olfactory bulb and of the external auditory canals, as well as microtia or anotia, have been reported. Patients also exhibit facial dysmorphisms, including microretrognathia in most; other variable features include structural cardiac anomalies and arthrogryposis with multiple pterygia (Le et al., 2021). Genetic Heterogeneity of Familial Visceral Neuropathy Autosomal recessive familial visceral neuropathy-2 (VSCN2; 619465) is caused by mutation in the ERBB2 gene (164870) on chromosome 17q12. Also see VSCN3 (609629) for an autosomal dominant form of the disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340946">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_369554"><div><strong>Mungan syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369554</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.">C1969653</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mungan syndrome (MGS) is characterized by chronic intestinal pseudoobstruction (CIPO), megaduodenum, long-segment Barrett esophagus, and cardiac abnormalities of variable severity (summary by Bonora et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/369554">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_412536"><div><strong>Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412536</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.">C2746068</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilatation and rupture of the thoracic aorta, pulmonary disease (pulmonary hypertension, alveolar hypoplasia, emphysema, asthma, chronic bronchitis), gastrointestinal dysmotility and obstruction, joint hypermobility, and macrothrombocytopenia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412536">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462264"><div><strong>Mitochondrial DNA depletion syndrome 4b</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462264</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.">C3150914</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined before the molecular basis was known. POLG-related disorders can therefore be considered an overlapping spectrum of disease presenting from early childhood to late adulthood. The age of onset broadly correlates with the clinical phenotype. In individuals with early-onset disease (prior to age 12 years), liver involvement, feeding difficulties, seizures, hypotonia, and muscle weakness are the most common clinical features. This group has the worst prognosis. In the juvenile/adult-onset form (age 12-40 years), disease is typically characterized by peripheral neuropathy, ataxia, seizures, stroke-like episodes, and, in individuals with longer survival, progressive external ophthalmoplegia (PEO). This group generally has a better prognosis than the early-onset group. Late-onset disease (after age 40 years) is characterized by ptosis and PEO, with additional features such as peripheral neuropathy, ataxia, and muscle weakness. This group overall has the best prognosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462264">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863911"><div><strong>Chronic atrial and intestinal dysrhythmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863911</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.">C4015474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndrome with characteristics of sick sinus syndrome and intestinal pseudo-obstruction. The heart and digestive issues develop at the same time, usually by age 20. The syndrome is caused by mutations in the SGO1 gene. This gene provides instructions for making part of a protein complex cohesin. This protein complex helps control the placement of chromosomes during cell division. Research suggests that SGO1 gene mutations may result in a cohesin complex that is less able to hold sister chromatids together, resulting in decreased chromosomal stability during cell division. This instability is thought to cause senescence of cells in the intestinal muscle and in the sinoatrial node, resulting in problems maintaining proper rhythmic movements of the heart and intestines.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863911">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1631838"><div><strong>Mitochondrial DNA depletion syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631838</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.">C4551995</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is characterized by progressive gastrointestinal dysmotility (manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain and/or distention, and diarrhea); cachexia; ptosis/ophthalmoplegia or ophthalmoparesis; leukoencephalopathy; and demyelinating peripheral neuropathy (manifesting as paresthesias (tingling, numbness, and pain) and symmetric and distal weakness more prominently affecting the lower extremities). The order in which manifestations appear is unpredictable. Onset is usually between the first and fifth decades; in about 60% of individuals, symptoms begin before age 20 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1631838">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1785391"><div><strong>Visceral myopathy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785391</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.">C5542197</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ACTG2 visceral myopathy is a disorder of smooth muscle dysfunction of the bladder and gastrointestinal system with phenotypic spectrum that ranges from mild to severe. Bladder involvement can range from neonatal megacystis and megaureter (with its most extreme form of prune belly syndrome) at the more severe end, to recurrent urinary tract infections and bladder dysfunction at the milder end. Intestinal involvement can range from malrotation, neonatal manifestations of microcolon, megacystis microcolon intestinal hypoperistalsis syndrome, and chronic intestinal pseudoobstruction (CIPO) in neonates at the more severe end to intermittent abdominal distention and functional intestinal obstruction at the milder end. Affected infants (with or without evidence of intestinal malrotation) often present with feeding intolerance and findings of non-mechanical bowel obstruction that persist after successful surgical correction of malrotation. Individuals who develop manifestations of CIPO in later childhood or adulthood often experience episodic waxing and waning of bowel motility. They may undergo frequent abdominal surgeries (perhaps related to malrotation or adhesions causing mechanical obstruction) resulting in resection of dilated segments of bowel, often becoming dependent on total parenteral nutrition (TPN).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785391">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1783630"><div><strong>Visceral myopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1783630</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.">C5543466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Visceral myopathy-2 (VSCM2) is characterized by gastrointestinal symptoms resulting from intestinal dysmotility and paresis, including abdominal distention, pain, nausea, and vomiting. Some patients exhibit predominantly esophageal symptoms, with hiatal hernia and severe reflux resulting in esophagitis and stricture, whereas others experience chronic intestinal pseudoobstruction. Bladder involvement resulting in megacystis and megaureter has also been observed and may be evident at birth (Dong et al., 2019; Gilbert et al. (2020)).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1783630">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1804209"><div><strong>Mitochondrial DNA depletion syndrome 20 (mngie type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1804209</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.">C5676934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial DNA depletion syndrome-20 (MTDPS20) is an autosomal recessive multisystem disorder with variable manifestations and severity. Most patients develop symptoms in childhood, although the onset can range from infancy to the teenage years. Prominent features include severe gastrointestinal dysmotility often requiring parenteral nutrition, neurogenic bladder, and muscle weakness and atrophy. Neurologic involvement manifests as headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline. Brain imaging usually shows diffuse leukoencephalopathy and may show cerebellar atrophy. The disorder results from a defect in the maintenance and repair of mitochondrial DNA, resulting in mtDNA depletion and impaired mitochondrial function (summary by Bonora et al., 2021). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1804209">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic atrial and intestinal dysrhythmia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Curry-Jones syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412536" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1631838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1804209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 20 (mngie type)</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (12)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462264" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 4b</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7734" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis, MPS-II</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_369554" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mungan syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375302" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1785391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visceral myopathy 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1783630" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visceral myopathy 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340946" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visceral neuropathy, familial, 1, autosomal recessive</a></div></span></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/34479179">ESPEN practical guideline: Clinical nutrition in chronic intestinal failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cuerda C,
|
||
Pironi L,
|
||
Arends J,
|
||
Bozzetti F,
|
||
Gillanders L,
|
||
Jeppesen PB,
|
||
Joly F,
|
||
Kelly D,
|
||
Lal S,
|
||
Staun M,
|
||
Szczepanek K,
|
||
Van Gossum A,
|
||
Wanten G,
|
||
Schneider SM,
|
||
Bischoff SC;
|
||
Home Artificial Nutrition & Chronic Intestinal Failure Special Interest Group of ESPEN</span><br />
|
||
<span class="medgenPMjournal">Clin Nutr</span>
|
||
2021 Sep;40(9):5196-5220.
|
||
Epub 2021 Aug 2
|
||
doi: 10.1016/j.clnu.2021.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34479179" target="_blank">34479179</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29877952">Pathophysiology, Diagnosis, and Management of Chronic Intestinal Pseudo-Obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Downes TJ,
|
||
Cheruvu MS,
|
||
Karunaratne TB,
|
||
De Giorgio R,
|
||
Farmer AD</span><br />
|
||
<span class="medgenPMjournal">J Clin Gastroenterol</span>
|
||
2018 Jul;52(6):477-489.
|
||
doi: 10.1097/MCG.0000000000001047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29877952" target="_blank">29877952</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29570554">Paediatric Intestinal Pseudo-obstruction: Evidence and Consensus-based Recommendations From an ESPGHAN-Led Expert Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thapar N,
|
||
Saliakellis E,
|
||
Benninga MA,
|
||
Borrelli O,
|
||
Curry J,
|
||
Faure C,
|
||
De Giorgio R,
|
||
Gupte G,
|
||
Knowles CH,
|
||
Staiano A,
|
||
Vandenplas Y,
|
||
Di Lorenzo C</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2018 Jun;66(6):991-1019.
|
||
doi: 10.1097/MPG.0000000000001982.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29570554" target="_blank">29570554</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22intestinal%20pseudo-obstruction%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 (59)</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/37389240">Epidemiology of small intestinal bacterial overgrowth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Efremova I,
|
||
Maslennikov R,
|
||
Poluektova E,
|
||
Vasilieva E,
|
||
Zharikov Y,
|
||
Suslov A,
|
||
Letyagina Y,
|
||
Kozlov E,
|
||
Levshina A,
|
||
Ivashkin V</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2023 Jun 14;29(22):3400-3421.
|
||
doi: 10.3748/wjg.v29.i22.3400.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37389240" target="_blank">37389240</a><a href="/pmc/articles/PMC10303511" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37132128">Pyridostigmine in chronic intestinal pseudo-obstruction - a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilkie BD,
|
||
Noori J,
|
||
Johnston M,
|
||
Woods R,
|
||
Keck JO,
|
||
Behrenbruch C</span><br />
|
||
<span class="medgenPMjournal">ANZ J Surg</span>
|
||
2023 Sep;93(9):2086-2091.
|
||
Epub 2023 May 2
|
||
doi: 10.1111/ans.18478.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37132128" target="_blank">37132128</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35482095">Paediatric intestinal pseudo-obstruction: a scoping review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nham S,
|
||
Nguyen ATM,
|
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Holland AJA</span><br />
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<span class="medgenPMjournal">Eur J Pediatr</span>
|
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2022 Jul;181(7):2619-2632.
|
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Epub 2022 Apr 28
|
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doi: 10.1007/s00431-021-04365-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35482095" target="_blank">35482095</a><a href="/pmc/articles/PMC9192403" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29877952">Pathophysiology, Diagnosis, and Management of Chronic Intestinal Pseudo-Obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Downes TJ,
|
||
Cheruvu MS,
|
||
Karunaratne TB,
|
||
De Giorgio R,
|
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Farmer AD</span><br />
|
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<span class="medgenPMjournal">J Clin Gastroenterol</span>
|
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2018 Jul;52(6):477-489.
|
||
doi: 10.1097/MCG.0000000000001047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29877952" target="_blank">29877952</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/17643910">Constipation.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bharucha AE</span><br />
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<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
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<span class="bold">PMID: </span><a href="/pubmed/17643910" target="_blank">17643910</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intestinal%20pseudo-obstruction%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 (461)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/37132128">Pyridostigmine in chronic intestinal pseudo-obstruction - a systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Wilkie BD,
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Noori J,
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Johnston M,
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Woods R,
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Keck JO,
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Behrenbruch C</span><br />
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<span class="medgenPMjournal">ANZ J Surg</span>
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2023 Sep;93(9):2086-2091.
|
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Epub 2023 May 2
|
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doi: 10.1111/ans.18478.
|
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<span class="bold">PMID: </span><a href="/pubmed/37132128" target="_blank">37132128</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/35482095">Paediatric intestinal pseudo-obstruction: a scoping review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Nham S,
|
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Nguyen ATM,
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Holland AJA</span><br />
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<span class="medgenPMjournal">Eur J Pediatr</span>
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2022 Jul;181(7):2619-2632.
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Epub 2022 Apr 28
|
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doi: 10.1007/s00431-021-04365-9.
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<span class="bold">PMID: </span><a href="/pubmed/35482095" target="_blank">35482095</a><a href="/pmc/articles/PMC9192403" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32073506">Update on chronic intestinal pseudo-obstruction.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zenzeri L,
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Tambucci R,
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Quitadamo P,
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Giorgio V,
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<span class="bold">PMID: </span><a href="/pubmed/32073506" target="_blank">32073506</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29877952">Pathophysiology, Diagnosis, and Management of Chronic Intestinal Pseudo-Obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Downes TJ,
|
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Cheruvu MS,
|
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Karunaratne TB,
|
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De Giorgio R,
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Farmer AD</span><br />
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<span class="medgenPMjournal">J Clin Gastroenterol</span>
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doi: 10.1097/MCG.0000000000001047.
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<span class="bold">PMID: </span><a href="/pubmed/29877952" target="_blank">29877952</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29570554">Paediatric Intestinal Pseudo-obstruction: Evidence and Consensus-based Recommendations From an ESPGHAN-Led Expert Group.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thapar N,
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Saliakellis E,
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Benninga MA,
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Borrelli O,
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Curry J,
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Faure C,
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De Giorgio R,
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Gupte G,
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Knowles CH,
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Staiano A,
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<span class="bold">PMID: </span><a href="/pubmed/29570554" target="_blank">29570554</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intestinal%20pseudo-obstruction%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 (881)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37132128">Pyridostigmine in chronic intestinal pseudo-obstruction - a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wilkie BD,
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Noori J,
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Johnston M,
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Woods R,
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Keck JO,
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Behrenbruch C</span><br />
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2023 Sep;93(9):2086-2091.
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Epub 2023 May 2
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doi: 10.1111/ans.18478.
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<span class="bold">PMID: </span><a href="/pubmed/37132128" target="_blank">37132128</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35482095">Paediatric intestinal pseudo-obstruction: a scoping review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nham S,
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Nguyen ATM,
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Holland AJA</span><br />
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<span class="medgenPMjournal">Eur J Pediatr</span>
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2022 Jul;181(7):2619-2632.
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Epub 2022 Apr 28
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doi: 10.1007/s00431-021-04365-9.
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<span class="bold">PMID: </span><a href="/pubmed/35482095" target="_blank">35482095</a><a href="/pmc/articles/PMC9192403" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33252179">Postoperative ileus-An ongoing conundrum.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wattchow D,
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Heitmann P,
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Smolilo D,
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Spencer NJ,
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Parker D,
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<span class="bold">PMID: </span><a href="/pubmed/33252179" target="_blank">33252179</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Moss AA,
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<div class="nl"><a target="_blank" href="/pubmed/37389240">Epidemiology of small intestinal bacterial overgrowth.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/37389240" target="_blank">37389240</a><a href="/pmc/articles/PMC10303511" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33252179">Postoperative ileus-An ongoing conundrum.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wattchow D,
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Heitmann P,
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Smolilo D,
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Spencer NJ,
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Parker D,
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Hibberd T,
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Brookes SSJ,
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Dinning PG,
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Costa M</span><br />
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<span class="medgenPMjournal">Neurogastroenterol Motil</span>
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<span class="bold">PMID: </span><a href="/pubmed/33252179" target="_blank">33252179</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29877952">Pathophysiology, Diagnosis, and Management of Chronic Intestinal Pseudo-Obstruction.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Downes TJ,
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Cheruvu MS,
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Karunaratne TB,
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De Giorgio R,
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Farmer AD</span><br />
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<span class="medgenPMjournal">J Clin Gastroenterol</span>
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<span class="bold">PMID: </span><a href="/pubmed/29877952" target="_blank">29877952</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29570554">Paediatric Intestinal Pseudo-obstruction: Evidence and Consensus-based Recommendations From an ESPGHAN-Led Expert Group.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thapar N,
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Saliakellis E,
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Benninga MA,
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Borrelli O,
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Curry J,
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Faure C,
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De Giorgio R,
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Gupte G,
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Knowles CH,
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Staiano A,
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Vandenplas Y,
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Di Lorenzo C</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/29570554" target="_blank">29570554</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20572300">Small intestinal bacterial overgrowth syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bures J,
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Cyrany J,
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Kohoutova D,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intestinal%20pseudo-obstruction%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 (375)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37132128">Pyridostigmine in chronic intestinal pseudo-obstruction - a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wilkie BD,
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Noori J,
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Johnston M,
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Woods R,
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Keck JO,
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Behrenbruch C</span><br />
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<span class="medgenPMjournal">ANZ J Surg</span>
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2023 Sep;93(9):2086-2091.
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Epub 2023 May 2
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doi: 10.1111/ans.18478.
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<span class="bold">PMID: </span><a href="/pubmed/37132128" target="_blank">37132128</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34667088">SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/34667088" target="_blank">34667088</a><a href="/pmc/articles/PMC8788258" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33729000">Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31516082">The expanding phenotypes of cohesinopathies: one ring to rule them all!</a></div>
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|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/29877952">Pathophysiology, Diagnosis, and Management of Chronic Intestinal Pseudo-Obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Downes TJ,
|
||
Cheruvu MS,
|
||
Karunaratne TB,
|
||
De Giorgio R,
|
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Farmer AD</span><br />
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<span class="medgenPMjournal">J Clin Gastroenterol</span>
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2018 Jul;52(6):477-489.
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doi: 10.1097/MCG.0000000000001047.
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<span class="bold">PMID: </span><a href="/pubmed/29877952" target="_blank">29877952</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intestinal%20pseudo-obstruction%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 (263)</a></div></div>
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</div>
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|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37132128">Pyridostigmine in chronic intestinal pseudo-obstruction - a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilkie BD,
|
||
Noori J,
|
||
Johnston M,
|
||
Woods R,
|
||
Keck JO,
|
||
Behrenbruch C</span><br />
|
||
<span class="medgenPMjournal">ANZ J Surg</span>
|
||
2023 Sep;93(9):2086-2091.
|
||
Epub 2023 May 2
|
||
doi: 10.1111/ans.18478.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37132128" target="_blank">37132128</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34599567">Prucalopride in intestinal pseudo obstruction, paediatric experience and systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Mutalib M,
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Kammermeier J,
|
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Vora R,
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Borrelli O</span><br />
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<span class="medgenPMjournal">Acta Gastroenterol Belg</span>
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2021 Jul-Sep;84(3):429-434.
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doi: 10.51821/84.3.002.
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<span class="bold">PMID: </span><a href="/pubmed/34599567" target="_blank">34599567</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/30636241">Effect of Caffeine Intake on Postoperative Ileus: A Systematic Review and Meta-Analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gkegkes ID,
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Minis EE,
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Iavazzo C</span><br />
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<span class="medgenPMjournal">Dig Surg</span>
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<span class="bold">PMID: </span><a href="/pubmed/30636241" target="_blank">30636241</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27174045">Prucalopride: For functional constipation only?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bellini M,
|
||
Gambaccini D,
|
||
Bassotti G</span><br />
|
||
<span class="medgenPMjournal">Tech Coloproctol</span>
|
||
2016 Jul;20(7):433-6.
|
||
Epub 2016 May 12
|
||
doi: 10.1007/s10151-016-1477-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27174045" target="_blank">27174045</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19763686">Systematic review and meta-analysis of chewing-gum therapy in the reduction of postoperative paralytic ileus following gastrointestinal surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fitzgerald JE,
|
||
Ahmed I</span><br />
|
||
<span class="medgenPMjournal">World J Surg</span>
|
||
2009 Dec;33(12):2557-66.
|
||
doi: 10.1007/s00268-009-0104-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19763686" target="_blank">19763686</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intestinal%20pseudo-obstruction%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (32)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0021847%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
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<li><a href="/gtr/tests?term=C0021847%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
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<li><a href="/gtr/tests?term=C0021847%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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