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<meta name="keywords" content="C1857276, diarrhea, fatal infantile, with trichorrhexis nodosa, diarrhea, syndromic, disease or syndrome, fatal infantile diarrhea with trichorrhexis nodosa, intractable diarrhea with phenotypic anomalies, phenotypic diarrhea, phenotypic diarrhea of infancy, phenotypic diarrhoea, sd/the, syndromatic diarrhea, syndromatic diarrhoea, syndromic diarrhea, syndromic diarrhea/tricho-hepato-enteric syndrome, syndromic diarrhoea, the syndrome, thes1, tricho-hepato-enteric syndrome, trichohepatoenteric syndrome, trichohepatoenteric syndrome type 1, 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="Although the spectrum of phenotypic expression in trichohepatoenteric syndrome (THES) is broad, the characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhea in infancy requiring total parenteral nutrition, and immunodepression. Hepatic involvement contributes to the poor prognosis of affected patients (summary by Fabre et al., 2007). Genetic Heterogeneity of Trichohepatoenteric Syndrome Trichohepatoenteric syndrome-2 (THES2; 614602) is caused by mutation in the SKIV2L gene (SKIC2; 600478) on chromosome 6p21. Reviews Bourgeois et al. (2018) analyzed a cohort of 96 patients with THES from 85 different families, drawing from published reports (37 patients) and their own recruitment (59 patients). Approximately two-thirds of the patients carried biallelic TTC37 mutations, and one-third had SKIVL2 mutations; in 8 (8.3%) of the patients, only 1 mutation could be identified. Intractable diarrhea was present in 100% of patients regardless of genotype, with hair abnormalities (woolly, brittle, easily removable) present in 90%. Facial dysmorphisms were observed in 84% of clinically described patients, comprising primarily large forehead, broad nasal root, and hypertelorism. Intrauterine growth retardation was frequent, seen in 70% of TTC37-mutated patients and 86% of SKIV2L-mutated patients; however, there was no significant difference in postnatal growth between the 2 groups. Liver disease was common, and more frequent in patients with mutation in SKIV2L (88%) than in TTC37 (51%); findings ranged from elevated liver enzymes and hepatomegaly to fibrosis and cirrhosis. Immunodeficiency was reported in about half of clinically explored patients, presenting as low immunoglobulin count or lack of antibody response to immunization. In addition, approximately 40% to 50% of patients exhibited dermatologic abnormalities, mostly cafe-au-lait spots located on the lower limbs. Overall, the authors noted that THES patients with mutation in either gene exhibit remarkably similar clinical signs, involving primarily the gastrointestinal tract, hair, and face, and are indistinguishable in clinical practice. However, a few differences emerged from analysis of the cohort, with SKIV2L-associated THES showing an earlier onset and/or greater severity, with more severe liver disease and significantly smaller height and weight at birth." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=347405
|
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ConceptID=C1857276
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Trichohepatoenteric syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347405</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:">C1857276</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Syndromic diarrhea; THE SYNDROME; Tricho-hepato-enteric syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Tricho-hepato-enteric syndrome (703406006); Trichohepatoenteric syndrome (703406006); Phenotypic diarrhea of infancy (703406006); Syndromic diarrhea (703406006); Fatal infantile diarrhea with trichorrhexis nodosa (703406006); Intractable diarrhea with phenotypic anomalies (703406006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009105" target="_blank">MONDO:0009105</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/222470" target="_blank">222470</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS222470" target="_blank">PS222470</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=84064">ORPHA84064</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">Although the spectrum of phenotypic expression in trichohepatoenteric syndrome (THES) is broad, the characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhea in infancy requiring total parenteral nutrition, and immunodepression. Hepatic involvement contributes to the poor prognosis of affected patients (summary by Fabre et al., 2007). Genetic Heterogeneity of Trichohepatoenteric Syndrome Trichohepatoenteric syndrome-2 (THES2; 614602) is caused by mutation in the SKIV2L gene (SKIC2; 600478) on chromosome 6p21. Reviews Bourgeois et al. (2018) analyzed a cohort of 96 patients with THES from 85 different families, drawing from published reports (37 patients) and their own recruitment (59 patients). Approximately two-thirds of the patients carried biallelic TTC37 mutations, and one-third had SKIVL2 mutations; in 8 (8.3%) of the patients, only 1 mutation could be identified. Intractable diarrhea was present in 100% of patients regardless of genotype, with hair abnormalities (woolly, brittle, easily removable) present in 90%. Facial dysmorphisms were observed in 84% of clinically described patients, comprising primarily large forehead, broad nasal root, and hypertelorism. Intrauterine growth retardation was frequent, seen in 70% of TTC37-mutated patients and 86% of SKIV2L-mutated patients; however, there was no significant difference in postnatal growth between the 2 groups. Liver disease was common, and more frequent in patients with mutation in SKIV2L (88%) than in TTC37 (51%); findings ranged from elevated liver enzymes and hepatomegaly to fibrosis and cirrhosis. Immunodeficiency was reported in about half of clinically explored patients, presenting as low immunoglobulin count or lack of antibody response to immunization. In addition, approximately 40% to 50% of patients exhibited dermatologic abnormalities, mostly cafe-au-lait spots located on the lower limbs. Overall, the authors noted that THES patients with mutation in either gene exhibit remarkably similar clinical signs, involving primarily the gastrointestinal tract, hair, and face, and are indistinguishable in clinical practice. However, a few differences emerged from analysis of the cohort, with SKIV2L-associated THES showing an earlier onset and/or greater severity, with more severe liver disease and significantly smaller height and weight at birth. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Trichohepatoenteric syndrome is a condition that affects the hair (tricho-), liver (hepato-), and intestines (enteric), as well as other tissues and organs in the body. This condition is also known as syndromic diarrhea because chronic, difficult-to-treat diarrhea is one of its major features. Within the first few weeks of life, affected infants develop watery diarrhea that occurs multiple times per day. Even with nutritional support through intravenous feedings (parenteral nutrition), many of these children experience failure to thrive, which means they do not gain weight or grow at the expected rate. Most children with trichohepatoenteric syndrome are small at birth, and they remain shorter than their peers throughout life.<br /><br />Trichohepatoenteric syndrome is often life-threatening in childhood, particularly in children who develop liver disease or severe infections.<br /><br />Abnormal hair is another feature of trichohepatoenteric syndrome. Hair in affected individuals is described as wooly, brittle, patchy, and easily pulled out. Under a microscope, some strands of hair can be seen to vary in diameter, with thicker and thinner spots. This feature is known as trichorrhexis nodosa.<br /><br />Other signs and symptoms of trichohepatoenteric syndrome can include liver disease; skin abnormalities; and distinctive facial features, including a wide forehead, a broad base of the nose, and widely spaced eyes. Overall, the facial features are described as "coarse." Most affected individuals also experience immune system abnormalities that can make them prone to developing infections. Less commonly, trichohepatoenteric syndrome is associated with heart (cardiac) abnormalities. Mild intellectual disability has been reported in at least half of all children with the condition. <a target="_blank" href="https://medlineplus.gov/genetics/condition/trichohepatoenteric-syndrome">https://medlineplus.gov/genetics/condition/trichohepatoenteric-syndrome</a></div></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>
|
||
<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=C1857276[DISCUI]&test_type=Clinical" ref="ncbi_uid=347405">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347405" target="_blank" href="/omim/222470">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347405" ref="ncbi_uid=347405">V</a></span></span><span class="TLline">Trichohepatoenteric syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842599" ref="tree=MeSH" title="MedGen record for Hereditary parenchymatous liver disease">Hereditary parenchymatous liver disease</a></span><ul><li><span class="matched_ds">Trichohepatoenteric syndrome</span></li></ul></li></ul></div></div></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/38318294">Gut microbiota and polycystic ovary syndrome, focus on genetic associations: a bidirectional Mendelian randomization study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang J,
|
||
Fiori PL,
|
||
Capobianco G,
|
||
Carru C,
|
||
Chen Z</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2024;15:1275419.
|
||
Epub 2024 Jan 22
|
||
doi: 10.3389/fendo.2024.1275419.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38318294" target="_blank">38318294</a><a href="/pmc/articles/PMC10838976" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34414925">Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alsaleem BM,
|
||
Hasosah M,
|
||
Ahmed ABM,
|
||
Al Hatlani MM,
|
||
Alanazi AH,
|
||
Al-Hussaini A,
|
||
Asery AT,
|
||
Alghamdi KA,
|
||
AlRuwaithi MM,
|
||
Khormi MAM,
|
||
Al Sarkhy A,
|
||
Alshamrani AS</span><br />
|
||
<span class="medgenPMjournal">Saudi J Gastroenterol</span>
|
||
2022 Mar-Apr;28(2):135-142.
|
||
doi: 10.4103/sjg.sjg_200_21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34414925" target="_blank">34414925</a><a href="/pmc/articles/PMC9007078" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29868001">Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vély F,
|
||
Barlogis V,
|
||
Marinier E,
|
||
Coste ME,
|
||
Dubern B,
|
||
Dugelay E,
|
||
Lemale J,
|
||
Martinez-Vinson C,
|
||
Peretti N,
|
||
Perry A,
|
||
Bourgeois P,
|
||
Badens C,
|
||
Goulet O,
|
||
Hugot JP,
|
||
Farnarier C,
|
||
Fabre A</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2018;9:1036.
|
||
Epub 2018 May 11
|
||
doi: 10.3389/fimmu.2018.01036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29868001" target="_blank">29868001</a><a href="/pmc/articles/PMC5958188" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25714577">Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Monies DM,
|
||
Rahbeeni Z,
|
||
Abouelhoda M,
|
||
Naim EA,
|
||
Al-Younes B,
|
||
Meyer BF,
|
||
Al-Mehaidib A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2015 Mar;60(3):352-6.
|
||
doi: 10.1097/MPG.0000000000000627.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25714577" target="_blank">25714577</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24108068">Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fabre A,
|
||
Breton A,
|
||
Coste ME,
|
||
Colomb V,
|
||
Dubern B,
|
||
Lachaux A,
|
||
Lemale J,
|
||
Mancini J,
|
||
Marinier E,
|
||
Martinez-Vinson C,
|
||
Peretti N,
|
||
Perry A,
|
||
Roquelaure B,
|
||
Venaille A,
|
||
Sarles J,
|
||
Goulet O,
|
||
Badens C</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2014 Jan;99(1):35-8.
|
||
Epub 2013 Oct 9
|
||
doi: 10.1136/archdischild-2013-304016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24108068" target="_blank">24108068</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trichohepatoenteric%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38874671">Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozturk M,
|
||
Ates K,
|
||
Esener Z,
|
||
Mutlu H,
|
||
Aydogmus C,
|
||
Boztug K,
|
||
Sarac H,
|
||
Gezdirici A,
|
||
Dogan M,
|
||
Beser OF,
|
||
Varol FI,
|
||
Gokce IK,
|
||
Ozdemir R,
|
||
Tekedereli I</span><br />
|
||
<span class="medgenPMjournal">Mol Biol Rep</span>
|
||
2024 Jun 14;51(1):736.
|
||
doi: 10.1007/s11033-024-09656-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38874671" target="_blank">38874671</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34037310">Expanding the clinical spectrum in trichohepatoenteric syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dorum S,
|
||
Gorukmez O</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Oct;185(10):2873-2877.
|
||
Epub 2021 May 26
|
||
doi: 10.1002/ajmg.a.62354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34037310" target="_blank">34037310</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30844479">Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poulton C,
|
||
Pathak G,
|
||
Mina K,
|
||
Lassman T,
|
||
Azmanov DN,
|
||
McCormack E,
|
||
Broley S,
|
||
Dreyer L,
|
||
Gration D,
|
||
Taylor E,
|
||
OSullivan M,
|
||
Siafarikis A,
|
||
Ravikumara M,
|
||
Dawkins H,
|
||
Pachter N,
|
||
Baynam G</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2019 May 30;699:110-114.
|
||
Epub 2019 Mar 4
|
||
doi: 10.1016/j.gene.2019.02.059.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30844479" target="_blank">30844479</a><a href="/pmc/articles/PMC7872052" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29527791">Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bourgeois P,
|
||
Esteve C,
|
||
Chaix C,
|
||
Béroud C,
|
||
Lévy N;
|
||
THES clinical consortium,
|
||
Fabre A,
|
||
Badens C</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2018 Jun;39(6):774-789.
|
||
Epub 2018 Mar 25
|
||
doi: 10.1002/humu.23418.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29527791" target="_blank">29527791</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26747865">The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Overeem AW,
|
||
Posovszky C,
|
||
Rings EH,
|
||
Giepmans BN,
|
||
van IJzendoorn SC</span><br />
|
||
<span class="medgenPMjournal">Dis Model Mech</span>
|
||
2016 Jan;9(1):1-12.
|
||
doi: 10.1242/dmm.022269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26747865" target="_blank">26747865</a><a href="/pmc/articles/PMC4728335" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trichohepatoenteric%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (26)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38318294">Gut microbiota and polycystic ovary syndrome, focus on genetic associations: a bidirectional Mendelian randomization study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang J,
|
||
Fiori PL,
|
||
Capobianco G,
|
||
Carru C,
|
||
Chen Z</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2024;15:1275419.
|
||
Epub 2024 Jan 22
|
||
doi: 10.3389/fendo.2024.1275419.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38318294" target="_blank">38318294</a><a href="/pmc/articles/PMC10838976" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29130476">Graft versus host disease in a pediatric multiple organ transplant recipient with trichohepatoenteric syndrome - a unique case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rambhia PH,
|
||
Hanna R,
|
||
Bergfeld WF</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2018 Jan;57(1):89-91.
|
||
Epub 2017 Nov 11
|
||
doi: 10.1111/ijd.13820.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29130476" target="_blank">29130476</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29145277">Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hiejima E,
|
||
Yasumi T,
|
||
Nakase H,
|
||
Matsuura M,
|
||
Honzawa Y,
|
||
Higuchi H,
|
||
Okafuji I,
|
||
Yorifuji T,
|
||
Tanaka T,
|
||
Izawa K,
|
||
Kawai T,
|
||
Nishikomori R,
|
||
Heike T</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2017 Nov;96(46):e8601.
|
||
doi: 10.1097/MD.0000000000008601.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29145277" target="_blank">29145277</a><a href="/pmc/articles/PMC5704822" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28027214">IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Busoni VB,
|
||
Lemale J,
|
||
Dubern B,
|
||
Frangi F,
|
||
Bourgeois P,
|
||
Orsi M,
|
||
Badens C,
|
||
Fabre A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2017 Jan;64(1):37-41.
|
||
doi: 10.1097/MPG.0000000000001218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28027214" target="_blank">28027214</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trichohepatoenteric%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35575086">UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duclaux-Loras R,
|
||
Lebreton C,
|
||
Berthelet J,
|
||
Charbit-Henrion F,
|
||
Nicolle O,
|
||
Revenu des Courtils C,
|
||
Waich S,
|
||
Valovka T,
|
||
Khiat A,
|
||
Rabant M,
|
||
Racine C,
|
||
Guerrera IC,
|
||
Baptista J,
|
||
Mahe MM,
|
||
Hess MW,
|
||
Durel B,
|
||
Lefort N,
|
||
Banal C,
|
||
Parisot M,
|
||
Talbotec C,
|
||
Lacaille F,
|
||
Ecochard-Dugelay E,
|
||
Demir AM,
|
||
Vogel GF,
|
||
Faivre L,
|
||
Rodrigues A,
|
||
Fowler D,
|
||
Janecke AR,
|
||
Müller T,
|
||
Huber LA,
|
||
Rodrigues-Lima F,
|
||
Ruemmele FM,
|
||
Uhlig HH,
|
||
Del Bene F,
|
||
Michaux G,
|
||
Cerf-Bensussan N,
|
||
Parlato M</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2022 May 16;132(10)
|
||
doi: 10.1172/JCI154997.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35575086" target="_blank">35575086</a><a href="/pmc/articles/PMC9106349" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34414925">Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alsaleem BM,
|
||
Hasosah M,
|
||
Ahmed ABM,
|
||
Al Hatlani MM,
|
||
Alanazi AH,
|
||
Al-Hussaini A,
|
||
Asery AT,
|
||
Alghamdi KA,
|
||
AlRuwaithi MM,
|
||
Khormi MAM,
|
||
Al Sarkhy A,
|
||
Alshamrani AS</span><br />
|
||
<span class="medgenPMjournal">Saudi J Gastroenterol</span>
|
||
2022 Mar-Apr;28(2):135-142.
|
||
doi: 10.4103/sjg.sjg_200_21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34414925" target="_blank">34414925</a><a href="/pmc/articles/PMC9007078" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34037310">Expanding the clinical spectrum in trichohepatoenteric syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dorum S,
|
||
Gorukmez O</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Oct;185(10):2873-2877.
|
||
Epub 2021 May 26
|
||
doi: 10.1002/ajmg.a.62354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34037310" target="_blank">34037310</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29130476">Graft versus host disease in a pediatric multiple organ transplant recipient with trichohepatoenteric syndrome - a unique case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rambhia PH,
|
||
Hanna R,
|
||
Bergfeld WF</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2018 Jan;57(1):89-91.
|
||
Epub 2017 Nov 11
|
||
doi: 10.1111/ijd.13820.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29130476" target="_blank">29130476</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23974064">A new genetic mutation in a patient with syndromic diarrhea and hepatoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bozzetti V,
|
||
Bovo G,
|
||
Vanzati A,
|
||
Roggero P,
|
||
Tagliabue PE</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2013 Sep;57(3):e15.
|
||
doi: 10.1097/MPG.0b013e31825600c4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23974064" target="_blank">23974064</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trichohepatoenteric%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38874671">Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozturk M,
|
||
Ates K,
|
||
Esener Z,
|
||
Mutlu H,
|
||
Aydogmus C,
|
||
Boztug K,
|
||
Sarac H,
|
||
Gezdirici A,
|
||
Dogan M,
|
||
Beser OF,
|
||
Varol FI,
|
||
Gokce IK,
|
||
Ozdemir R,
|
||
Tekedereli I</span><br />
|
||
<span class="medgenPMjournal">Mol Biol Rep</span>
|
||
2024 Jun 14;51(1):736.
|
||
doi: 10.1007/s11033-024-09656-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38874671" target="_blank">38874671</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35658015">RNA exosome drives early B cell development via noncoding RNA processing mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laffleur B,
|
||
Batista CR,
|
||
Zhang W,
|
||
Lim J,
|
||
Yang B,
|
||
Rossille D,
|
||
Wu L,
|
||
Estrella J,
|
||
Rothschild G,
|
||
Pefanis E,
|
||
Basu U</span><br />
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||
<span class="medgenPMjournal">Sci Immunol</span>
|
||
2022 Jun 3;7(72):eabn2738.
|
||
doi: 10.1126/sciimmunol.abn2738.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35658015" target="_blank">35658015</a><a href="/pmc/articles/PMC9357289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35575086">UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duclaux-Loras R,
|
||
Lebreton C,
|
||
Berthelet J,
|
||
Charbit-Henrion F,
|
||
Nicolle O,
|
||
Revenu des Courtils C,
|
||
Waich S,
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||
Valovka T,
|
||
Khiat A,
|
||
Rabant M,
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||
Racine C,
|
||
Guerrera IC,
|
||
Baptista J,
|
||
Mahe MM,
|
||
Hess MW,
|
||
Durel B,
|
||
Lefort N,
|
||
Banal C,
|
||
Parisot M,
|
||
Talbotec C,
|
||
Lacaille F,
|
||
Ecochard-Dugelay E,
|
||
Demir AM,
|
||
Vogel GF,
|
||
Faivre L,
|
||
Rodrigues A,
|
||
Fowler D,
|
||
Janecke AR,
|
||
Müller T,
|
||
Huber LA,
|
||
Rodrigues-Lima F,
|
||
Ruemmele FM,
|
||
Uhlig HH,
|
||
Del Bene F,
|
||
Michaux G,
|
||
Cerf-Bensussan N,
|
||
Parlato M</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2022 May 16;132(10)
|
||
doi: 10.1172/JCI154997.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35575086" target="_blank">35575086</a><a href="/pmc/articles/PMC9106349" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29484573">Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vardi I,
|
||
Barel O,
|
||
Sperber M,
|
||
Schvimer M,
|
||
Nunberg M,
|
||
Field M,
|
||
Ouahed J,
|
||
Marek-Yagel D,
|
||
Werner L,
|
||
Haberman Y,
|
||
Lahad A,
|
||
Anikster Y,
|
||
Rechavi G,
|
||
Barshack I,
|
||
McElwee JJ,
|
||
Maranville J,
|
||
Somech R,
|
||
Snapper SB,
|
||
Weiss B,
|
||
Shouval DS</span><br />
|
||
<span class="medgenPMjournal">Dig Dis Sci</span>
|
||
2018 May;63(5):1192-1199.
|
||
Epub 2018 Feb 26
|
||
doi: 10.1007/s10620-018-4983-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29484573" target="_blank">29484573</a><a href="/pmc/articles/PMC6167312" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26526116">The localisation of the apical Par/Cdc42 polarity module is specifically affected in microvillus inclusion disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michaux G,
|
||
Massey-Harroche D,
|
||
Nicolle O,
|
||
Rabant M,
|
||
Brousse N,
|
||
Goulet O,
|
||
Le Bivic A,
|
||
Ruemmele FM</span><br />
|
||
<span class="medgenPMjournal">Biol Cell</span>
|
||
2016 Jan;108(1):19-28.
|
||
Epub 2015 Dec 8
|
||
doi: 10.1111/boc.201500034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26526116" target="_blank">26526116</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trichohepatoenteric%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1857276%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
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<li><a href="/gtr/tests?term=C1857276%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1857276%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
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<li><a href="/gtr/tests?term=C1857276%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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