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<!--
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||
UID=108201
|
||
ConceptID=C0549613
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Biliary tract abnormality</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108201</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.">C0549613</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Biliary tract disease; biliary tract disorder; biliary tree disease; biliary tree disease or disorder; disease of biliary tree; disease or disorder of biliary tree; disorder of biliary tree</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:0001080">HP:0001080</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0004868" target="_blank">MONDO:0004868</a></td></tr>
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</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>
|
||
<div class="portlet_content ln">An abnormality of the biliary tree. [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_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=C0549613[DISCUI]&test_type=Clinical" ref="ncbi_uid=108201">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Biliary tract abnormality</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/867396" ref="tree=MeSH" title="MedGen record for Abnormality of the abdominal organs">Abnormality of the abdominal organs</a></span><ul><li><span class="TLline"><a href="/medgen/893061" ref="tree=MeSH" title="MedGen record for Abnormality of the liver">Abnormality of the liver</a></span><ul><li><span class="TLline"><a href="/medgen/184895" ref="tree=MeSH" title="MedGen record for Abnormality of the biliary system">Abnormality of the biliary system</a></span><ul><li><span class="matched_ds">Biliary tract abnormality</span><ul><li><span class="TLline"><a href="/medgen/866739" ref="tree=MeSH" title="MedGen record for Abnormal biliary tract morphology">Abnormal biliary tract morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866598" ref="tree=MeSH" title="MedGen record for Abnormal ductus choledochus morphology">Abnormal ductus choledochus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/3037" ref="tree=MeSH" title="MedGen record for Bile duct cyst">Bile duct cyst</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1842019" ref="tree=MeSH" title="MedGen record for Abnormal extrahepatic bile duct morphology">Abnormal extrahepatic bile duct morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1841915" ref="tree=MeSH" title="MedGen record for Extrahepatic bile duct fibrosis">Extrahepatic bile duct fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/1621383" ref="tree=MeSH" title="MedGen record for Extrahepatic biliary atresia">Extrahepatic biliary atresia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869157" ref="tree=MeSH" title="MedGen record for Abnormal intrahepatic bile duct morphology">Abnormal intrahepatic bile duct morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1815078" ref="tree=MeSH" title="MedGen record for Fibro-obliterative bile-duct lesion">Fibro-obliterative bile-duct lesion</a></span></li><li><span class="TLline"><a href="/medgen/657845" ref="tree=MeSH" title="MedGen record for Hepatolithiasis">Hepatolithiasis</a></span></li><li><span class="TLline"><a href="/medgen/1369213" ref="tree=MeSH" title="MedGen record for Interlobular bile duct destruction">Interlobular bile duct destruction</a></span></li><li><span class="TLline"><a href="/medgen/586535" ref="tree=MeSH" title="MedGen record for Intrahepatic bile duct cysts">Intrahepatic bile duct cysts</a></span></li><li><span class="TLline"><a href="/medgen/903901" ref="tree=MeSH" title="MedGen record for Intrahepatic bile duct dilatation">Intrahepatic bile duct dilatation</a></span></li><li><span class="TLline"><a href="/medgen/343308" ref="tree=MeSH" title="MedGen record for Intrahepatic biliary atresia">Intrahepatic biliary atresia</a></span></li><li><span class="TLline"><a href="/medgen/347107" ref="tree=MeSH" title="MedGen record for Intrahepatic biliary dysgenesis">Intrahepatic biliary dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/892333" ref="tree=MeSH" title="MedGen record for Reduced number of intrahepatic bile ducts">Reduced number of intrahepatic bile ducts</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1863709" ref="tree=MeSH" title="MedGen record for Beaded bile ducts">Beaded bile ducts</a></span></li><li><span class="TLline"><a href="/medgen/1815091" ref="tree=MeSH" title="MedGen record for Bile duct polyp">Bile duct polyp</a></span></li><li><span class="TLline"><a href="/medgen/120603" ref="tree=MeSH" title="MedGen record for Bile duct proliferation">Bile duct proliferation</a></span></li><li><span class="TLline"><a href="/medgen/14117" ref="tree=MeSH" title="MedGen record for Biliary atresia">Biliary atresia</a></span></li><li><span class="TLline"><a href="/medgen/44182" ref="tree=MeSH" title="MedGen record for Biliary cirrhosis">Biliary cirrhosis</a></span><ul><li><span class="TLline"><a href="/medgen/3035" ref="tree=MeSH" title="MedGen record for Primary biliary cholangitis">Primary biliary cholangitis</a></span></li><li><span class="TLline"><a href="/medgen/68653" ref="tree=MeSH" title="MedGen record for Secondary biliary cirrhosis">Secondary biliary cirrhosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1380718" ref="tree=MeSH" title="MedGen record for Biliary epithelial hyperplasia">Biliary epithelial hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/892498" ref="tree=MeSH" title="MedGen record for Biliary hyperplasia">Biliary hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/14118" ref="tree=MeSH" title="MedGen record for Biliary tract neoplasm">Biliary tract neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/14114" ref="tree=MeSH" title="MedGen record for Bile duct neoplasm">Bile duct neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/60210" ref="tree=MeSH" title="MedGen record for Cholangiocarcinoma">Cholangiocarcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1373951" ref="tree=MeSH" title="MedGen record for Multiple biliary hamartomas">Multiple biliary hamartomas</a></span></li><li><span class="TLline"><a href="/medgen/42134" ref="tree=MeSH" title="MedGen record for Neoplasm of the gallbladder">Neoplasm of the gallbladder</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/96034" ref="tree=MeSH" title="MedGen record for Biliary tract obstruction">Biliary tract obstruction</a></span><ul><li><span class="TLline"><a href="/medgen/858067" ref="tree=MeSH" title="MedGen record for Malignant Biliary Obstruction">Malignant Biliary Obstruction</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1815056" ref="tree=MeSH" title="MedGen record for Ductal bile plugs">Ductal bile plugs</a></span></li><li><span class="TLline"><a href="/medgen/1864122" ref="tree=MeSH" title="MedGen record for Pneumobilia">Pneumobilia</a></span></li><li><span class="TLline"><a href="/medgen/1370370" ref="tree=MeSH" title="MedGen record for Portosystemic collateral veins">Portosystemic collateral veins</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868505" ref="tree=MeSH" title="MedGen record for Abnormal biliary tract physiology">Abnormal biliary tract physiology</a></span><ul><li><span class="TLline"><a href="/medgen/2627" ref="tree=MeSH" title="MedGen record for Biliary dyskinesia">Biliary dyskinesia</a></span><ul><li><span class="TLline"><a href="/medgen/209233" ref="tree=MeSH" title="MedGen record for Dysfunction of sphincter of Oddi">Dysfunction of sphincter of Oddi</a></span></li><li><span class="TLline"><a href="/medgen/258517" ref="tree=MeSH" title="MedGen record for Gallbladder dyskinesia">Gallbladder dyskinesia</a></span></li><li><span class="TLline"><a href="/medgen/885515" ref="tree=MeSH" title="MedGen record for Sphincter of Oddi dyskinesia">Sphincter of Oddi dyskinesia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42393" ref="tree=MeSH" title="MedGen record for Hemobilia">Hemobilia</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 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">
|
||
<div class="divPopper rprt" id="rdis_7181"><div><strong>Dubin-Johnson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7181</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.">C0022350</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function (summary by Wada et al., 1998).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7181">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_18404"><div><strong>Peutz-Jeghers syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18404</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.">C0031269</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peutz-Jeghers syndrome (PJS) is characterized by the association of gastrointestinal (GI) polyposis, mucocutaneous pigmentation, and cancer predisposition. PJS-type hamartomatous polyps are most common in the small intestine (in order of prevalence: jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters. GI polyps can result in chronic bleeding, anemia, and recurrent obstruction and intussusception requiring repeated laparotomy and bowel resection. Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa. Hyperpigmented macules on the fingers are common. The macules may fade in puberty and adulthood. Recognition of the distinctive skin manifestations is important especially in individuals who have PJS as the result of a de novo pathogenic variant as these skin findings often predate GI signs and symptoms. Individuals with PJS are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers). Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries, and adenoma malignum of the cervix, a rare aggressive cancer. Males occasionally develop large calcifying Sertoli cell tumors of the testes, which secrete estrogen and can lead to gynecomastia, advanced skeletal age, and ultimately short stature, if untreated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18404">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_95931"><div><strong>Roberts-SC phocomelia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>95931</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.">C0392475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ESCO2 spectrum disorder is characterized by mild-to-severe prenatal growth restriction, limb malformations (which can include bilateral symmetric tetraphocomelia or hypomelia caused by mesomelic shortening), hand anomalies (including oligodactyly, thumb aplasia or hypoplasia, and syndactyly), elbow and knee flexion contractures (involving elbows, wrists, knees, ankles, and feet [talipes equinovarus]), and craniofacial abnormalities (which can include bilateral cleft lip and/or cleft palate, micrognathia, widely spaced eyes, exophthalmos, downslanted palpebral fissures, malar flattening, and underdeveloped ala nasi), ear malformation, and corneal opacities. Intellectual disability (ranging from mild to severe) is common. Early mortality is common among severely affected pregnancies and newborns; mildly affected individuals may survive to adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/95931">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96569"><div><strong>Renal cysts and diabetes syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96569</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.">C0431693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder [ASD], attention-deficit/hyperactivity disorder [ADHD], schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85%-90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96569">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163204"><div><strong>Peters plus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163204</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:">C0796012</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay / intellectual disability. The most common anterior chamber defect is Peters' anomaly, consisting of central corneal clouding, thinning of the posterior cornea, and iridocorneal adhesions. Cataracts and glaucoma are common. Developmental delay is observed in about 80% of children; intellectual disability can range from mild to severe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163204">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395288"><div><strong>Bare lymphocyte syndrome type 2, complementation group A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395288</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.">C1859534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune system categorized as a form of combined immunodeficiency (CID). People with BLS II lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.\n\nBLS II is typically diagnosed in the first year of life. Most affected infants have persistent infections in the respiratory, gastrointestinal, and urinary tracts. Because of the infections, affected infants have difficulty absorbing nutrients (malabsorption), and they grow more slowly than their peers. Eventually, the persistent infections lead to organ failure. Without treatment, individuals with BLS II usually do not survive past early childhood.\n\nIn people with BLS II, infection-fighting white blood cells (lymphocytes) are missing specialized proteins on their surface called major histocompatibility complex (MHC) class II proteins, which is where the condition got its name. Because BLS II is the most common and best studied form of a group of related conditions, it is often referred to as simply bare lymphocyte syndrome (BLS).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395288">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_408255"><div><strong>4p partial monosomy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>408255</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.">C1956097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/408255">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_422452"><div><strong>Bardet-Biedl syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>422452</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.">C2936862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl Syndrome BBS2 (615981) is caused by mutation in a gene on 16q13 (606151); BBS3 (600151), by mutation in the ARL6 gene on 3q11 (608845); BBS4 (615982), by mutation in a gene on 15q22 (600374); BBS5 (615983), by mutation in a gene on 2q31 (603650); BBS6 (605231), by mutation in the MKKS gene on 20p12 (604896); BBS7 (615984), by mutation in a gene on 4q27 (607590); BBS8 (615985), by mutation in the TTC8 gene on 14q32 (608132); BBS9 (615986), by mutation in a gene on 7p14 (607968); BBS10 (615987), by mutation in a gene on 12q21 (610148); BBS11 (615988), by mutation in the TRIM32 gene on 9q33 (602290); BBS12 (615989), by mutation in a gene on 4q27 (610683); BBS13 (615990), by mutation in the MKS1 gene (609883) on 17q23; BBS14 (615991), by mutation in the CEP290 gene (610142) on 12q21, BBS15 (615992), by mutation in the WDPCP gene (613580) on 2p15; BBS16 (615993), by mutation in the SDCCAG8 gene (613524) on 1q43; BBS17 (615994), by mutation in the LZTFL1 gene (606568) on 3p21; BBS18 (615995), by mutation in the BBIP1 gene (613605) on 10q25; BBS19 (615996), by mutation in the IFT27 gene (615870) on 22q12; BBS20 (619471), by mutation in the IFT172 gene (607386) on 9p21; BBS21 (617406), by mutation in the CFAP418 gene (614477) on 8q22; and BBS22 (617119), by mutation in the IFT74 gene (608040) on 9p21. The CCDC28B gene (610162) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67; 609884), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes. Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene (608845.0002) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene (209901.0001). Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (613464), caused by TTC8 mutation, and RP55 (613575), caused by ARL6 mutation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/422452">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_408255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">4p partial monosomy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_422452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bare lymphocyte syndrome type 2, complementation group A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7181" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dubin-Johnson syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163204" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peters plus syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18404" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peutz-Jeghers syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96569" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cysts and diabetes syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_95931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Roberts-SC phocomelia syndrome</a></div></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_105">
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<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>
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||
<div class="nl"><a target="_blank" href="/pubmed/36257874">Diagnosis and management of choledochal cysts.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brown ZJ,
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Baghdadi A,
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Kamel I,
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Labiner HE,
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Hewitt DB,
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||
Pawlik TM</span><br />
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||
<span class="medgenPMjournal">HPB (Oxford)</span>
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||
2023 Jan;25(1):14-25.
|
||
Epub 2022 Oct 5
|
||
doi: 10.1016/j.hpb.2022.09.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36257874" target="_blank">36257874</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33728632">Endoscopic management of ampullary tumors: European Society of Gastrointestinal Endoscopy (ESGE) Guideline.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanbiervliet G,
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Strijker M,
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Arvanitakis M,
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Aelvoet A,
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Arnelo U,
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Beyna T,
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Busch O,
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Deprez PH,
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Kunovsky L,
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Larghi A,
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||
Manes G,
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Moss A,
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||
Napoleon B,
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||
Nayar M,
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Pérez-Cuadrado-Robles E,
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||
Seewald S,
|
||
Barthet M,
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||
van Hooft JE</span><br />
|
||
<span class="medgenPMjournal">Endoscopy</span>
|
||
2021 Apr;53(4):429-448.
|
||
Epub 2021 Mar 16
|
||
doi: 10.1055/a-1397-3198.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33728632" target="_blank">33728632</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27429428">Guideline for the Evaluation of Cholestatic Jaundice in Infants: Joint Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fawaz R,
|
||
Baumann U,
|
||
Ekong U,
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||
Fischler B,
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||
Hadzic N,
|
||
Mack CL,
|
||
McLin VA,
|
||
Molleston JP,
|
||
Neimark E,
|
||
Ng VL,
|
||
Karpen SJ</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2017 Jan;64(1):154-168.
|
||
doi: 10.1097/MPG.0000000000001334.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27429428" target="_blank">27429428</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(biliary%20tract%20abnormality)%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 (214)</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/25392237">Is Antibiotic Prophylaxis for Percutaneous Radiofrequency Ablation (RFA) of Primary Liver Tumors Necessary? Results From a Single-Center Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhatia SS,
|
||
Spector S,
|
||
Echenique A,
|
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Froud T,
|
||
Suthar R,
|
||
Lawson I,
|
||
Dalal R,
|
||
Dinh V,
|
||
Yrizarry J,
|
||
Narayanan G</span><br />
|
||
<span class="medgenPMjournal">Cardiovasc Intervent Radiol</span>
|
||
2015 Aug;38(4):922-8.
|
||
Epub 2014 Nov 13
|
||
doi: 10.1007/s00270-014-1020-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25392237" target="_blank">25392237</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18491679">Polypoid lesion of the gallbladder in childhood: case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scarpa MG,
|
||
Gamba PG,
|
||
Greggio NA,
|
||
Chiarenza SF,
|
||
Fasoli L,
|
||
Musi L,
|
||
Zanon GF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Med Chir</span>
|
||
2008 Jan-Feb;30(1):45-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18491679" target="_blank">18491679</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9722862">Enlarged fetal gallbladder: prognostic importance for aneuploidy or biliary abnormality at antenatal US.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hertzberg BS,
|
||
Kliewer MA,
|
||
Bowie JD,
|
||
McNally PJ</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
1998 Sep;208(3):795-8.
|
||
doi: 10.1148/radiology.208.3.9722862.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9722862" target="_blank">9722862</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8389687">AIDS-related cholangiopathy. Critical analysis of a prospective series of 26 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benhamou Y,
|
||
Caumes E,
|
||
Gerosa Y,
|
||
Cadranel JF,
|
||
Dohin E,
|
||
Katlama C,
|
||
Amouyal P,
|
||
Canard JM,
|
||
Azar N,
|
||
Hoang C</span><br />
|
||
<span class="medgenPMjournal">Dig Dis Sci</span>
|
||
1993 Jun;38(6):1113-8.
|
||
doi: 10.1007/BF01295729.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8389687" target="_blank">8389687</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Biliary%20tract%20abnormality%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36773103">A case of double gallbladder with cholelithiasis diagnosed with transabdominal ultrasound.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang XZ,
|
||
Liu J</span><br />
|
||
<span class="medgenPMjournal">J Med Ultrason (2001)</span>
|
||
2023 Apr;50(2):263-264.
|
||
Epub 2023 Feb 11
|
||
doi: 10.1007/s10396-023-01287-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36773103" target="_blank">36773103</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10982635">Gallbladder agenesis with no other biliary tract abnormality: report of a case and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gotohda N,
|
||
Itano S,
|
||
Horiki S,
|
||
Endo A,
|
||
Nakao A,
|
||
Terada N,
|
||
Tanaka N</span><br />
|
||
<span class="medgenPMjournal">J Hepatobiliary Pancreat Surg</span>
|
||
2000;7(3):327-30.
|
||
doi: 10.1007/s005340070057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10982635" target="_blank">10982635</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9722862">Enlarged fetal gallbladder: prognostic importance for aneuploidy or biliary abnormality at antenatal US.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hertzberg BS,
|
||
Kliewer MA,
|
||
Bowie JD,
|
||
McNally PJ</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
1998 Sep;208(3):795-8.
|
||
doi: 10.1148/radiology.208.3.9722862.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9722862" target="_blank">9722862</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8389687">AIDS-related cholangiopathy. Critical analysis of a prospective series of 26 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benhamou Y,
|
||
Caumes E,
|
||
Gerosa Y,
|
||
Cadranel JF,
|
||
Dohin E,
|
||
Katlama C,
|
||
Amouyal P,
|
||
Canard JM,
|
||
Azar N,
|
||
Hoang C</span><br />
|
||
<span class="medgenPMjournal">Dig Dis Sci</span>
|
||
1993 Jun;38(6):1113-8.
|
||
doi: 10.1007/BF01295729.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8389687" target="_blank">8389687</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3936742">Relationship between perivaterian diverticulum and biliary tract disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matsumoto J,
|
||
Shibue T,
|
||
Hashimoto S</span><br />
|
||
<span class="medgenPMjournal">Gastroenterol Jpn</span>
|
||
1985 Dec;20(6):577-81.
|
||
doi: 10.1007/BF02774818.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3936742" target="_blank">3936742</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Biliary%20tract%20abnormality%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 (9)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25392237">Is Antibiotic Prophylaxis for Percutaneous Radiofrequency Ablation (RFA) of Primary Liver Tumors Necessary? Results From a Single-Center Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhatia SS,
|
||
Spector S,
|
||
Echenique A,
|
||
Froud T,
|
||
Suthar R,
|
||
Lawson I,
|
||
Dalal R,
|
||
Dinh V,
|
||
Yrizarry J,
|
||
Narayanan G</span><br />
|
||
<span class="medgenPMjournal">Cardiovasc Intervent Radiol</span>
|
||
2015 Aug;38(4):922-8.
|
||
Epub 2014 Nov 13
|
||
doi: 10.1007/s00270-014-1020-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25392237" target="_blank">25392237</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14716449">Three-dimensional reconstructed images using multidetector computed tomography in evaluation of the biliary tract.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim HC,
|
||
Park SH,
|
||
Park SI,
|
||
Shin HC,
|
||
Park SJ,
|
||
Kim HH,
|
||
Kim YT,
|
||
Bae WK,
|
||
Kim IY</span><br />
|
||
<span class="medgenPMjournal">Abdom Imaging</span>
|
||
2004 Jul-Aug;29(4):472-8.
|
||
Epub 2004 Jan 14
|
||
doi: 10.1007/s00261-003-0123-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14716449" target="_blank">14716449</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Biliary%20tract%20abnormality%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24362668">A unique spontaneous subcapsular bilioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shrestha A,
|
||
Lama TK</span><br />
|
||
<span class="medgenPMjournal">JNMA J Nepal Med Assoc</span>
|
||
2013 Apr-Jun;52(190):395-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24362668" target="_blank">24362668</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18491679">Polypoid lesion of the gallbladder in childhood: case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scarpa MG,
|
||
Gamba PG,
|
||
Greggio NA,
|
||
Chiarenza SF,
|
||
Fasoli L,
|
||
Musi L,
|
||
Zanon GF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Med Chir</span>
|
||
2008 Jan-Feb;30(1):45-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18491679" target="_blank">18491679</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9722862">Enlarged fetal gallbladder: prognostic importance for aneuploidy or biliary abnormality at antenatal US.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hertzberg BS,
|
||
Kliewer MA,
|
||
Bowie JD,
|
||
McNally PJ</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
1998 Sep;208(3):795-8.
|
||
doi: 10.1148/radiology.208.3.9722862.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9722862" target="_blank">9722862</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Biliary%20tract%20abnormality%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/10982635">Gallbladder agenesis with no other biliary tract abnormality: report of a case and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gotohda N,
|
||
Itano S,
|
||
Horiki S,
|
||
Endo A,
|
||
Nakao A,
|
||
Terada N,
|
||
Tanaka N</span><br />
|
||
<span class="medgenPMjournal">J Hepatobiliary Pancreat Surg</span>
|
||
2000;7(3):327-30.
|
||
doi: 10.1007/s005340070057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10982635" target="_blank">10982635</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Biliary%20tract%20abnormality%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0549613%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C0549613%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (13)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0549613%5bDISCUI%5d" target="_blank">See all (13)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Biliary%20tract%20abnormality" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
||
|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(biliary%20tract%20abnormality)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Biliary%20tract%20abnormality%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Biliary%20tract%20abnormality" target="_blank">MedlinePlus</a></li></ul></div>
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<ul>
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<li>
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||
<a href="/pubmed/clinical?term=Biliary%20tract%20abnormality" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
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</li>
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<li>
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||
<a href="/pubmed?term=Biliary%20tract%20abnormality%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
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</li>
|
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</ul>
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||
</div>
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
|
||
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