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<!--
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UID=3039
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ConceptID=C0008350
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cholelithiasis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3039</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.">C0008350</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>Cholelithiases; Gallstone Disease; Gallstone Diseases</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Biliary calculus (266474003); Cholelithiasis (266474003); CL - Cholelithiasis (266474003); Stone - biliary (266474003); Calculus - biliary (266474003); Calculus in biliary tract (266474003)</td></tr>
|
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<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:0001081">HP:0001081</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012672" target="_blank">MONDO:0012672</a></td></tr>
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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">Hard, pebble-like deposits that form within the gallbladder. [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>
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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 unavailable round" title="Clinical test">C</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">Cholelithiasis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/78584" ref="tree=MeSH" title="MedGen record for Abnormality of the digestive system">Abnormality of the digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/867396" ref="tree=MeSH" title="MedGen record for Abnormality of the abdominal organs">Abnormality of the abdominal organs</a></span><ul><li><span class="TLline"><a href="/medgen/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="TLline"><a href="/medgen/539793" ref="tree=MeSH" title="MedGen record for Abnormality of the gallbladder">Abnormality of the gallbladder</a></span><ul><li><span class="TLline"><a href="/medgen/868507" ref="tree=MeSH" title="MedGen record for Abnormal gallbladder morphology">Abnormal gallbladder morphology</a></span><ul><li><span class="matched_ds">Cholelithiasis</span><ul><li><span class="TLline"><a href="/medgen/215268" ref="tree=MeSH" title="MedGen record for Cholecystolithiasis">Cholecystolithiasis</a></span><ul><li><span class="TLline"><a href="/medgen/120604" ref="tree=MeSH" title="MedGen record for Calculus of cystic duct">Calculus of cystic duct</a></span></li><li><span class="TLline"><a href="/medgen/66850" ref="tree=MeSH" title="MedGen record for Gallstones">Gallstones</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/148784" ref="tree=MeSH" title="MedGen record for Choledocholithiasis">Choledocholithiasis</a></span></li><li><span class="TLline"><a href="/medgen/488946" ref="tree=MeSH" title="MedGen record for Cholesterol gallstones">Cholesterol gallstones</a></span></li><li><span class="TLline"><a href="/medgen/1864221" ref="tree=MeSH" title="MedGen record for Ectopic gallstone">Ectopic gallstone</a></span></li><li><span class="TLline"><a href="/medgen/480495" ref="tree=MeSH" title="MedGen record for Pigment gallstones">Pigment gallstones</a></span><ul><li><span class="TLline"><a href="/medgen/868695" ref="tree=MeSH" title="MedGen record for Black pigment gallstones">Black pigment gallstones</a></span></li><li><span class="TLline"><a href="/medgen/868694" ref="tree=MeSH" title="MedGen record for Brown pigment gallstones">Brown pigment gallstones</a></span></li></ul></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">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_287"><div><strong>Hb SS disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>287</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.">C0002895</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sickle cell disease (SCD) is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. Vaso-occlusive events result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, including the bones, spleen, liver, brain, lungs, kidneys, and joints. Dactylitis (pain and/or swelling of the hands or feet) is often the earliest manifestation of SCD. In children, the spleen can become engorged with blood cells in a "splenic sequestration." The spleen is particularly vulnerable to infarction and the majority of individuals with SCD who are not on hydroxyurea or transfusion therapy become functionally asplenic in early childhood, increasing their risk for certain types of bacterial infections, primarily encapsulated organisms. Acute chest syndrome (ACS) is a major cause of mortality in SCD. Chronic hemolysis can result in varying degrees of anemia, jaundice, cholelithiasis, and delayed growth and sexual maturation as well as activating pathways that contribute to the pathophysiology directly. Individuals with the highest rates of hemolysis are at higher risk for pulmonary artery hypertension, priapism, and leg ulcers and may be relatively protected from vaso-occlusive pain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/287">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_4297"><div><strong>DiGeorge syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4297</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.">C0012236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4297">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_5342"><div><strong>Glycogen storage disease, type VII</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5342</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.">C0017926</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5342">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_39125"><div><strong>Polyglandular autoimmune syndrome, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39125</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.">C0085859</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autoimmune polyglandular syndrome type I (APS1) is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis (Neufeld et al., 1981). However, variable APS1 phenotypes have been observed, even among sibs. In addition, some patients may exhibit apparent isolated hypoparathyroidism, an early manifestation of APS1 with peak incidence at around age 5 years; over long-term follow-up, the development of additional features of APS1 may be observed (Cranston et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39125">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_116041"><div><strong>Cholestanol storage disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116041</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:">C0238052</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Chronic diarrhea from infancy and/or neonatal cholestasis may be the earliest clinical manifestation. In approximately 75% of affected individuals, cataracts are the first finding, often appearing in the first decade of life. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Some individuals show cognitive impairment from early infancy, whereas the majority have normal or only slightly impaired intellectual function until puberty; dementia with slow deterioration in intellectual abilities occurs in the third decade in more than 50% of individuals. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent. Pyramidal signs (i.e., spasticity) and/or cerebellar signs almost invariably become evident between ages 20 and 30 years. The biochemical abnormalities that distinguish CTX from other conditions with xanthomas include high plasma and tissue cholestanol concentration, normal-to-low plasma cholesterol concentration, decreased chenodeoxycholic acid (CDCA), increased concentration of bile alcohols and their glyconjugates, and increased concentrations of cholestanol and apolipoprotein B in cerebrospinal fluid.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116041">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82895"><div><strong>HNSHA due to aldolase A deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82895</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.">C0272066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., 1987).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82895">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_473069"><div><strong>Pyruvate kinase deficiency of red cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473069</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.">C0340968</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Red cell pyruvate kinase deficiency, or congenital nonspherocytic hemolyic anemia-2 (CNSHA2), is the most common cause of hereditary nonspherocytic hemolytic anemia. PK deficiency is also the most frequent enzyme abnormality of the glycolytic pathway (Zanella et al., 2005).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/473069">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96563"><div><strong>Gillespie syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96563</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.">C0431401</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gillespie syndrome (GLSP) is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96563">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_266296"><div><strong>Congenital dyserythropoietic anemia, type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266296</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.">C1306589</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/266296">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335139"><div><strong>Syndromic X-linked intellectual disability Claes-Jensen type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335139</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.">C1845243</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Claes-Jensen type of X-linked syndromic intellectual developmental disorder (MRXSCJ) is characterized by impaired intellectual development with substantial clinical heterogeneity in affected males. However, males are usually reported to have short stature, microcephaly, hyperreflexia, and aggressive behavior. In rare cases, female carriers exhibit mildly impaired intellectual development or learning difficulties (summary by Guerra et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335139">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</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.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349893"><div><strong>Triosephosphate isomerase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349893</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.">C1860808</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Triosephosphate isomerase deficiency (TPID) is an autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, and progressive neuromuscular dysfunction beginning in early childhood. Many patients die from respiratory failure in childhood. The neurologic syndrome is variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Some patients may show additional signs such as dystonic posturing and/or spasticity. Laboratory studies show intracellular accumulation of dihydroxyacetone phosphate (DHAP), particularly in red blood cells (summary by Fermo et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349893">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370601"><div><strong>Gallbladder disease 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370601</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.">C1969115</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370601">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_435857"><div><strong>Benign recurrent intrahepatic cholestasis type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>435857</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.">C2608083</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/435857">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_760527"><div><strong>Low phospholipid associated cholelithiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>760527</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.">C2609268</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In general, gallbladder disease (GBD) is one of the major digestive diseases. GBD prevalence is particularly high in some minority populations in the United States, including Native and Mexican Americans. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations of GBD in western countries, including the United States. Most people with gallstones remain asymptomatic through their lifetimes; however, it is estimated that approximately 10 to 50% of individuals eventually develop symptoms. Significant risk factors associated with GBD are age, female sex, obesity (especially central obesity), lipids, diet, parity, type 2 diabetes (125853), medications, and Mexican American ethnicity. GBD appears to be strongly related to the metabolic syndrome (605552) and/or its major components, such as hyperinsulinism, dyslipidemia, and abdominal adiposity (Boland et al., 2002; Tsai et al., 2004). Infection, specifically by Helicobacter, has been implicated in cholelithiasis and cholecystitis (Silva et al., 2003; Maurer et al., 2005). Low phospholipid-associated cholelithiasis is a specific form of gallbladder disease characterized by young-adult onset of chronic cholestasis with intrahepatic sludge and cholesterol cholelithiasis. Affected individuals have recurrence of the disorder after cholecystectomy and show a favorable response to treatment with ursodeoxycholic acid (UDCA) (summary by Pasmant et al., 2012). Mutation in the ABCB4 gene can cause a spectrum of related diseases, including the more severe progressive familial intrahepatic cholestasis-3 (PFIC3; 602347), intrahepatic cholestasis of pregnancy-3 (ICP3; 614972), andoral contraceptive-induced cholestasis (OCIC; see 614972). Genetic Heterogeneity of Gallbladder Disease Two major susceptibility loci for symptomatic gallbladder disease have been identified on chromosome 1p in Mexican Americans (GBD2, 609918; GBD3, 609919). In addition, variations in the ABCG8 gene (605460) on chromosome 2p21 confer susceptibility to gallbladder disease (GBD4; 611465).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/760527">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_382302"><div><strong>Hereditary spherocytosis type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382302</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.">C2674218</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382302">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394385"><div><strong>X-linked erythropoietic protoporphyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394385</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.">C2677889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked protoporphyria (XLP) is characterized in affected males by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within minutes of sun/light exposure and may be accompanied by swelling and redness. Blistering lesions are uncommon. Pain, which may seem out of proportion to the visible skin lesions, may persist for hours or days after the initial phototoxic reaction. Photosensitivity is lifelong. Multiple episodes of acute photosensitivity may lead to chronic changes of sun-exposed skin (lichenification, leathery pseudovesicles, grooving around the lips) and loss of lunulae of the nails. An unknown proportion of individuals with XLP develop liver disease. Except for those with advanced liver disease, life expectancy is not reduced. The phenotype in heterozygous females ranges from asymptomatic to as severe as in affected males.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394385">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_461693"><div><strong>Hemolytic anemia due to hexokinase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461693</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.">C3150343</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in <i>HK1</i>, the gene that encodes red blood cell-specific hexokinase-R.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/461693">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462080"><div><strong>Hemolytic anemia due to glucophosphate isomerase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462080</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.">C3150730</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) may also occur in this disorder.\n\nHemolytic anemia in GPI deficiency can range from mild to severe. In the most severe cases, affected individuals do not survive to birth. Individuals with milder disease can survive into adulthood. People with any level of severity of the disorder can have episodes of more severe hemolysis, called hemolytic crises, which can be triggered by bacterial or viral infections.\n\nA small percentage of individuals with GPI deficiency also have neurological problems, including intellectual disability and difficulty with coordinating movements (ataxia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462080">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_886881"><div><strong>Steinert myotonic dystrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>886881</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.">C3250443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Congenital DM1 is characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/886881">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481594"><div><strong>Hyperbiliverdinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481594</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.">C3279964</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperbiliverdinemia can manifest as green jaundice, which is a green discoloration of the skin, urine, serum, and other bodily fluids, due to increased biliverdin resulting from inefficient conversion to bilirubin. Although rarely reported, affected individuals appear to have symptoms only in the context of obstructive cholestasis and/or liver failure. In some cases, green jaundice can resolve after resolution of obstructive cholestasis. Green jaundice has also been associated with malnutrition, medication, and congenital biliary atresia (summary by Huffman et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481594">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766916"><div><strong>Peroxisome biogenesis disorder 12A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766916</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.">C3554002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766916">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1638271"><div><strong>Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1638271</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.">C4551512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1638271">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645830"><div><strong>Progressive familial intrahepatic cholestasis type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645830</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.">C4551898</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645830">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1643471"><div><strong>Protoporphyria, erythropoietic, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643471</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.">C4692546</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Erythropoietic protoporphyria (EPP) is characterized by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within 30 minutes after exposure to sun or ultraviolet light and may be accompanied by swelling and redness. Symptoms (which may seem out of proportion to the visible skin lesions) may persist for hours or days after the initial phototoxic reaction. Photosensitivity remains for life. Multiple episodes of acute photosensitivity may lead to chronic changes of sun-exposed skin (lichenification, leathery pseudovesicles, grooving around the lips) and loss of lunulae of the nails. Approximately 20%-30% of individuals with EPP have some degree of liver dysfunction, which is typically mild with slight elevations of the liver enzymes. Up to 5% may develop more advanced liver disease which may be accompanied by motor neuropathy similar to that seen in the acute porphyrias.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643471">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648322"><div><strong>Trichohepatoneurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648322</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.">C4748898</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Trichohepatoneurodevelopmental syndrome is a complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and severe global developmental delay (Morimoto et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648322">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1719382"><div><strong>Mitochondrial complex 3 deficiency, nuclear type 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1719382</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.">C5394051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1719382">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1780242"><div><strong>Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1780242</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.">C5543287</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CIMDAG syndrome (CIMDAG) is a multisystemic disorder characterized by severely impaired psychomotor development and hematologic abnormalities apparent from early infancy. Affected individuals show poor overall growth with microcephaly, impaired intellectual development, poor or absent speech, poor eye contact, and motor problems, such as inability to walk, hypotonia, and spasticity. Brain imaging typically shows cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination. The associated hematologic abnormalities are variable, but are mostly consistent with congenital dyserythropoietic anemia (CDA) (summary by Rodger et al., 2020 and Seu et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1780242">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794140"><div><strong>Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794140</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.">C5561930</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies (MRXSPF) is characterized by a phenotypic triad of severe developmental delay, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females (Villegas et al., 2019; Diaz et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794140">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1845781"><div><strong>Combined oxidative phosphorylation deficiency 59</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845781</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.">C5882730</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-59 (COXPD59) may present as a lethal infantile form of Leigh syndrome (see 256000) or as a milder disorder with hypertrophic cardiomyopathy, lactic acidosis, attention deficit-hyperactivity disorder (ADHD) and survival into adulthood (summary by Amarasekera et al., 2023). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1845781">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1861084"><div><strong>Cutaneous porphyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861084</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.">C5886774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosensitivity with blistering and increased friability of the skin over light-exposed areas. Onset in most affected individuals occurs at birth or early infancy. The first manifestation is often pink-to-dark red discoloration of the urine. Hemolytic anemia is common and can range from mild to severe, with some affected individuals requiring chronic blood transfusions. Porphyrin deposition may lead to corneal ulcers and scarring, reddish-brown discoloration of the teeth (erythrodontia), and bone loss and/or expansion of the bone marrow. The phenotypic spectrum, however, is broad and ranges from nonimmune hydrops fetalis in utero to late-onset disease with only mild cutaneous manifestations in adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1861084">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_435857" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Benign recurrent intrahepatic cholestasis type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1780242" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_116041" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestanol storage disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1845781" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 59</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_266296" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital dyserythropoietic anemia, type II</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (31)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861084" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutaneous porphyria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1638271" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_4297" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DiGeorge syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370601" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gallbladder disease 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96563" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gillespie syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_5342" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease, type VII</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hb SS disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462080" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemolytic anemia due to glucophosphate isomerase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemolytic anemia due to hexokinase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382302" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spherocytosis type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">HNSHA due to aldolase A deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481594" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperbiliverdinemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794140" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_760527" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low phospholipid associated cholelithiasis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1719382" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 3 deficiency, nuclear type 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 12A (Zellweger)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyglandular autoimmune syndrome, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645830" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive familial intrahepatic cholestasis type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1643471" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Protoporphyria, erythropoietic, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_473069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyruvate kinase deficiency of red cells</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_886881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Steinert myotonic dystrophy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic X-linked intellectual disability Claes-Jensen type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichohepatoneurodevelopmental syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349893" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triosephosphate isomerase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394385" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked erythropoietic protoporphyria</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/37452855">Evidence-based clinical practice guidelines for cholelithiasis 2021.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujita N,
|
||
Yasuda I,
|
||
Endo I,
|
||
Isayama H,
|
||
Iwashita T,
|
||
Ueki T,
|
||
Uemura K,
|
||
Umezawa A,
|
||
Katanuma A,
|
||
Katayose Y,
|
||
Suzuki Y,
|
||
Shoda J,
|
||
Tsuyuguchi T,
|
||
Wakai T,
|
||
Inui K,
|
||
Unno M,
|
||
Takeyama Y,
|
||
Itoi T,
|
||
Koike K,
|
||
Mochida S</span><br />
|
||
<span class="medgenPMjournal">J Gastroenterol</span>
|
||
2023 Sep;58(9):801-833.
|
||
Epub 2023 Jul 15
|
||
doi: 10.1007/s00535-023-02014-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37452855" target="_blank">37452855</a><a href="/pmc/articles/PMC10423145" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34366622">Management of cholelithiasis with choledocholithiasis: Endoscopic and surgical approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cianci P,
|
||
Restini E</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2021 Jul 28;27(28):4536-4554.
|
||
doi: 10.3748/wjg.v27.i28.4536.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34366622" target="_blank">34366622</a><a href="/pmc/articles/PMC8326257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32234195">The Treatment of Gallstone Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gutt C,
|
||
Schläfer S,
|
||
Lammert F</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2020 Feb 28;117(9):148-158.
|
||
doi: 10.3238/arztebl.2020.0148.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32234195" target="_blank">32234195</a><a href="/pmc/articles/PMC7132079" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cholelithiasis%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 (264)</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/37945330">Novel insights into causal effects of serum lipids and lipid-modifying targets on cholelithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen L,
|
||
Qiu W,
|
||
Sun X,
|
||
Gao M,
|
||
Zhao Y,
|
||
Li M,
|
||
Fan Z,
|
||
Lv G</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
2024 Feb 23;73(3):521-532.
|
||
doi: 10.1136/gutjnl-2023-330784.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37945330" target="_blank">37945330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35363086">Surgical Infection Society Guidelines for Antibiotic Use in Patients Undergoing Cholecystectomy for Gallbladder Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colling KP,
|
||
Besshoff KE,
|
||
Forrester JD,
|
||
Kendrick D,
|
||
Mercier P,
|
||
Huston JM</span><br />
|
||
<span class="medgenPMjournal">Surg Infect (Larchmt)</span>
|
||
2022 May;23(4):339-350.
|
||
Epub 2022 Mar 31
|
||
doi: 10.1089/sur.2021.207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35363086" target="_blank">35363086</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34624136">Insights into modifiable risk factors of cholelithiasis: A Mendelian randomization study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen L,
|
||
Yang H,
|
||
Li H,
|
||
He C,
|
||
Yang L,
|
||
Lv G</span><br />
|
||
<span class="medgenPMjournal">Hepatology</span>
|
||
2022 Apr;75(4):785-796.
|
||
Epub 2021 Dec 13
|
||
doi: 10.1002/hep.32183.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34624136" target="_blank">34624136</a><a href="/pmc/articles/PMC9300195" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30908805">Cholelithiasis: Presentation and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Littlefield A,
|
||
Lenahan C</span><br />
|
||
<span class="medgenPMjournal">J Midwifery Womens Health</span>
|
||
2019 May;64(3):289-297.
|
||
Epub 2019 Mar 25
|
||
doi: 10.1111/jmwh.12959.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30908805" target="_blank">30908805</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27467059">Risk Factors for Cholelithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pak M,
|
||
Lindseth G</span><br />
|
||
<span class="medgenPMjournal">Gastroenterol Nurs</span>
|
||
2016 Jul-Aug;39(4):297-309.
|
||
doi: 10.1097/SGA.0000000000000235.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27467059" target="_blank">27467059</a><a href="/pmc/articles/PMC8802735" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholelithiasis%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 (5874)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36362164">The Etiology of Cholelithiasis in Children and Adolescents-A Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zdanowicz K,
|
||
Daniluk J,
|
||
Lebensztejn DM,
|
||
Daniluk U</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Nov 2;23(21)
|
||
doi: 10.3390/ijms232113376.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36362164" target="_blank">36362164</a><a href="/pmc/articles/PMC9657413" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30908805">Cholelithiasis: Presentation and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Littlefield A,
|
||
Lenahan C</span><br />
|
||
<span class="medgenPMjournal">J Midwifery Womens Health</span>
|
||
2019 May;64(3):289-297.
|
||
Epub 2019 Mar 25
|
||
doi: 10.1111/jmwh.12959.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30908805" target="_blank">30908805</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11237245">Asymptomatic neonatal cholelithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Citak EC,
|
||
Ergenekon E,
|
||
Alpaslan HG,
|
||
Atalay Y,
|
||
Koç E,
|
||
Zengin A</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2001 Jan;68(1):91-3.
|
||
doi: 10.1007/BF02728871.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11237245" target="_blank">11237245</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10750875">Management of gallstones and their complications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahmed A,
|
||
Cheung RC,
|
||
Keeffe EB</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2000 Mar 15;61(6):1673-80, 1687-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10750875" target="_blank">10750875</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7717308">Primary intrahepatic stones.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim MH,
|
||
Sekijima J,
|
||
Lee SP</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
1995 Apr;90(4):540-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7717308" target="_blank">7717308</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholelithiasis%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 (5281)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36578889">Efficacy and Safety of Semaglutide for Weight Loss in Obesity Without Diabetes: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tan HC,
|
||
Dampil OA,
|
||
Marquez MM</span><br />
|
||
<span class="medgenPMjournal">J ASEAN Fed Endocr Soc</span>
|
||
2022;37(2):65-72.
|
||
Epub 2022 Aug 23
|
||
doi: 10.15605/jafes.037.02.14.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36578889" target="_blank">36578889</a><a href="/pmc/articles/PMC9758543" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35344001">Association of Glucagon-Like Peptide-1 Receptor Agonist Use With Risk of Gallbladder and Biliary Diseases: A Systematic Review and Meta-analysis of Randomized Clinical Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">He L,
|
||
Wang J,
|
||
Ping F,
|
||
Yang N,
|
||
Huang J,
|
||
Li Y,
|
||
Xu L,
|
||
Li W,
|
||
Zhang H</span><br />
|
||
<span class="medgenPMjournal">JAMA Intern Med</span>
|
||
2022 May 1;182(5):513-519.
|
||
doi: 10.1001/jamainternmed.2022.0338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35344001" target="_blank">35344001</a><a href="/pmc/articles/PMC8961394" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34305810">Safety of Semaglutide.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smits MM,
|
||
Van Raalte DH</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2021;12:645563.
|
||
Epub 2021 Jul 7
|
||
doi: 10.3389/fendo.2021.645563.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34305810" target="_blank">34305810</a><a href="/pmc/articles/PMC8294388" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33080991">The Analysis of Risk Factors in the Conversion from Laparoscopic to Open Cholecystectomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warchałowski Ł,
|
||
Łuszczki E,
|
||
Bartosiewicz A,
|
||
Dereń K,
|
||
Warchałowska M,
|
||
Oleksy Ł,
|
||
Stolarczyk A,
|
||
Podlasek R</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2020 Oct 18;17(20)
|
||
doi: 10.3390/ijerph17207571.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33080991" target="_blank">33080991</a><a href="/pmc/articles/PMC7588875" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16127953">Management of gallstones.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bellows CF,
|
||
Berger DH,
|
||
Crass RA</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2005 Aug 15;72(4):637-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16127953" target="_blank">16127953</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholelithiasis%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 (4269)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38713609">Gallstones as a cause in presumed acute alcoholic pancreatitis: observational multicentre study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sissingh NJ,
|
||
de Rijk FEM,
|
||
Timmerhuis HC,
|
||
Umans DS,
|
||
Anten MGF,
|
||
Bouwense SAW,
|
||
van Delft F,
|
||
van Eijck BC,
|
||
Erkelens WG,
|
||
Hazen WL,
|
||
Kuiken SD,
|
||
Quispel R,
|
||
Romkens TEH,
|
||
Schwartz MP,
|
||
Seerden TC,
|
||
Spanier BWM,
|
||
Verlaan T,
|
||
Vleggaar FP,
|
||
Voermans RP,
|
||
Verdonk RC,
|
||
van Hooft JE</span><br />
|
||
<span class="medgenPMjournal">Br J Surg</span>
|
||
2024 May 3;111(5)
|
||
doi: 10.1093/bjs/znae107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38713609" target="_blank">38713609</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34382817">Laparoscopic Cholecystectomy in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dekonenko C,
|
||
Holcomb GW</span><br />
|
||
<span class="medgenPMjournal">J Laparoendosc Adv Surg Tech A</span>
|
||
2021 Oct;31(10):1180-1184.
|
||
Epub 2021 Aug 11
|
||
doi: 10.1089/lap.2021.0397.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34382817" target="_blank">34382817</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19726705">Cholelithiasis and cholecystitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guralnick S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2009 Sep;30(9):368-9; discussion 369.
|
||
doi: 10.1542/pir.30-9-368.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19726705" target="_blank">19726705</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12700089">Hepatolithiasis--epidemiology and pathogenesis update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shoda J,
|
||
Tanaka N,
|
||
Osuga T</span><br />
|
||
<span class="medgenPMjournal">Front Biosci</span>
|
||
2003 May 1;8:e398-409.
|
||
doi: 10.2741/1091.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12700089" target="_blank">12700089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/13500219">Gallstone intestinal obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">ROGERS FA,
|
||
CARTER R</span><br />
|
||
<span class="medgenPMjournal">Calif Med</span>
|
||
1958 Feb;88(2):140-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/13500219" target="_blank">13500219</a><a href="/pmc/articles/PMC1512579" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholelithiasis%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 (2737)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37945330">Novel insights into causal effects of serum lipids and lipid-modifying targets on cholelithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen L,
|
||
Qiu W,
|
||
Sun X,
|
||
Gao M,
|
||
Zhao Y,
|
||
Li M,
|
||
Fan Z,
|
||
Lv G</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
2024 Feb 23;73(3):521-532.
|
||
doi: 10.1136/gutjnl-2023-330784.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37945330" target="_blank">37945330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36510302">Management of symptomatic cholelithiasis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shenoy R,
|
||
Kirkland P,
|
||
Hadaya JE,
|
||
Tranfield MW,
|
||
DeVirgilio M,
|
||
Russell MM,
|
||
Maggard-Gibbons M</span><br />
|
||
<span class="medgenPMjournal">Syst Rev</span>
|
||
2022 Dec 12;11(1):267.
|
||
doi: 10.1186/s13643-022-02135-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36510302" target="_blank">36510302</a><a href="/pmc/articles/PMC9743645" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30928076">Sonography of Acute Cholecystitis and Its Mimics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oppenheimer DC,
|
||
Rubens DJ</span><br />
|
||
<span class="medgenPMjournal">Radiol Clin North Am</span>
|
||
2019 May;57(3):535-548.
|
||
Epub 2019 Feb 10
|
||
doi: 10.1016/j.rcl.2019.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30928076" target="_blank">30928076</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3043494">Cholecystitis and cholelithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taylor EL Jr,
|
||
Harrington TM</span><br />
|
||
<span class="medgenPMjournal">Prim Care</span>
|
||
1988 Mar;15(1):147-56.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3043494" target="_blank">3043494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7461469">Gallstones and the risk of cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lowenfels AB</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
1980 Dec;21(12):1090-2.
|
||
doi: 10.1136/gut.21.12.1090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7461469" target="_blank">7461469</a><a href="/pmc/articles/PMC1419394" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholelithiasis%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 (2291)</a></div></div>
|
||
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|
||
|
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<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/36578889">Efficacy and Safety of Semaglutide for Weight Loss in Obesity Without Diabetes: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tan HC,
|
||
Dampil OA,
|
||
Marquez MM</span><br />
|
||
<span class="medgenPMjournal">J ASEAN Fed Endocr Soc</span>
|
||
2022;37(2):65-72.
|
||
Epub 2022 Aug 23
|
||
doi: 10.15605/jafes.037.02.14.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36578889" target="_blank">36578889</a><a href="/pmc/articles/PMC9758543" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36510302">Management of symptomatic cholelithiasis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shenoy R,
|
||
Kirkland P,
|
||
Hadaya JE,
|
||
Tranfield MW,
|
||
DeVirgilio M,
|
||
Russell MM,
|
||
Maggard-Gibbons M</span><br />
|
||
<span class="medgenPMjournal">Syst Rev</span>
|
||
2022 Dec 12;11(1):267.
|
||
doi: 10.1186/s13643-022-02135-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36510302" target="_blank">36510302</a><a href="/pmc/articles/PMC9743645" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35344001">Association of Glucagon-Like Peptide-1 Receptor Agonist Use With Risk of Gallbladder and Biliary Diseases: A Systematic Review and Meta-analysis of Randomized Clinical Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">He L,
|
||
Wang J,
|
||
Ping F,
|
||
Yang N,
|
||
Huang J,
|
||
Li Y,
|
||
Xu L,
|
||
Li W,
|
||
Zhang H</span><br />
|
||
<span class="medgenPMjournal">JAMA Intern Med</span>
|
||
2022 May 1;182(5):513-519.
|
||
doi: 10.1001/jamainternmed.2022.0338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35344001" target="_blank">35344001</a><a href="/pmc/articles/PMC8961394" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34339416">Menopausal hormone therapy and women's health: An umbrella review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang GQ,
|
||
Chen JL,
|
||
Luo Y,
|
||
Mathur MB,
|
||
Anagnostis P,
|
||
Nurmatov U,
|
||
Talibov M,
|
||
Zhang J,
|
||
Hawrylowicz CM,
|
||
Lumsden MA,
|
||
Critchley H,
|
||
Sheikh A,
|
||
Lundbäck B,
|
||
Lässer C,
|
||
Kankaanranta H,
|
||
Lee SH,
|
||
Nwaru BI</span><br />
|
||
<span class="medgenPMjournal">PLoS Med</span>
|
||
2021 Aug;18(8):e1003731.
|
||
Epub 2021 Aug 2
|
||
doi: 10.1371/journal.pmed.1003731.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34339416" target="_blank">34339416</a><a href="/pmc/articles/PMC8366967" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32683979">Post-cholecystectomy Gallstone Ileus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meier J,
|
||
Guzzetta AA,
|
||
Huerta S</span><br />
|
||
<span class="medgenPMjournal">Am Surg</span>
|
||
2020 Jun;86(6):675-684.
|
||
doi: 10.1177/0003134820923296.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32683979" target="_blank">32683979</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholelithiasis%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 (86)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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=(%22cholelithiasis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Cholelithiasis%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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