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<meta name="keywords" content="3-alpha beta-hydroxy-delta-5-c27-steroid oxidoreductase, deficiency of, 3-beta-hydroxy-delta-5-c27-steroid dehydrogenase deficiency, 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency, 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency type 1, 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase, deficiency of, C1843116, basd1, bile acid synthesis defect, congenital, 1, bile acid synthesis defect, congenital, type 1, cbas1, congenital bile acid synthesis defect 1, congenital bile acid synthesis defect caused by mutation in hsd3b7, congenital bile acid synthesis defect type 1, congenital bile acid synthesis defect type 1 (cbas1), congenital bile acid synthesis defect, type 1, disease or syndrome, hsd3b7, hsd3b7 congenital bile acid synthesis defect, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. In most forms of the disorder, there is a favorable response to oral bile acid therapy (summary by Cheng et al., 2003). Genetic Heterogeneity of Congenital Defects in Bile Acid Synthesis There are several disorders that result from defects in bile acid synthesis. See CBAS2 (235555), caused by mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1; 604741) on chromosome 7q33; CBAS3 (613812), caused by mutation in the 7-alpha hydroxylase gene (CYP7B1; 603711) on chromosome 8q12; CBAS4 (214950), caused by mutation in the AMACR gene (604489) on chromosome 5p13; CBAS5 (616278), caused by mutation in the ABCD3 gene (170995) on chromosome 1p21; and CBAS6 (617308), caused by mutation in the ACOX2 gene (601641) on chromosome 3p14. See also progressive familial intrahepatic cholestasis (PFIC1; 211600), which has a similar phenotype." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=335883
|
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ConceptID=C1843116
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital bile acid synthesis defect 1<span class="h1sub">(CBAS1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335883</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:">C1843116</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>3-alpha beta-hydroxy-delta-5-c27-steroid oxidoreductase, deficiency of; 3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE DEFICIENCY; CBAS1</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (238033007); Congenital bile acid synthesis defect type 1 (238033007)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="HSD3B7 - ID: 80270 - NCBI Gene" href="/gene/80270" class="medgenPMinfo">HSD3B7</a> (16p11.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011906" target="_blank">MONDO:0011906</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/607765" target="_blank">607765</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79301">ORPHA79301</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
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<div class="portlet mgSection" id="ID_100">
|
||
<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">Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. In most forms of the disorder, there is a favorable response to oral bile acid therapy (summary by Cheng et al., 2003). Genetic Heterogeneity of Congenital Defects in Bile Acid Synthesis There are several disorders that result from defects in bile acid synthesis. See CBAS2 (235555), caused by mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1; 604741) on chromosome 7q33; CBAS3 (613812), caused by mutation in the 7-alpha hydroxylase gene (CYP7B1; 603711) on chromosome 8q12; CBAS4 (214950), caused by mutation in the AMACR gene (604489) on chromosome 5p13; CBAS5 (616278), caused by mutation in the ABCD3 gene (170995) on chromosome 1p21; and CBAS6 (617308), caused by mutation in the ACOX2 gene (601641) on chromosome 3p14. See also progressive familial intrahepatic cholestasis (PFIC1; 211600), which has a similar phenotype. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Congenital bile acid synthesis defect type 1 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 1 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced.<br /><br />The signs and symptoms of congenital bile acid synthesis defect type 1 often develop during the first weeks of life, but they can begin anytime from infancy into adulthood. Affected infants often have a failure to gain weight and grow at the expected rate (failure to thrive) and yellowing of the skin and eyes (jaundice) due to impaired bile flow and a buildup of partially formed bile. Excess fat in the feces (steatorrhea) is an additional feature of congenital bile acid synthesis defect type 1. As the condition progresses, affected individuals can develop liver abnormalities including an enlarged liver (hepatomegaly), inflammation, or chronic liver disease (cirrhosis). The spleen may also become enlarged (splenomegaly). The inability to absorb certain fat-soluble vitamins (vitamin D in particular) can result in softening and weakening of the bones (rickets) in some individuals.<br /><br />If left untreated, congenital bile acid synthesis defect type 1 often leads to cirrhosis and death in childhood. <a target="_blank" href="https://medlineplus.gov/genetics/condition/congenital-bile-acid-synthesis-defect-type-1">https://medlineplus.gov/genetics/condition/congenital-bile-acid-synthesis-defect-type-1</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3042"><div><strong>Intrahepatic cholestasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3042</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.">C0008372</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impairment of bile flow due to obstruction in the small bile ducts within the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3042">Feature record</a> | <a href="/medgen?term=%22Intrahepatic%20cholestasis%22%5BClinical%20Features%5D%20OR%203042%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8360"><div><strong>Diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8360</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0011991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8360">Feature record</a> | <a href="/medgen?term=%22Diarrhea%22%5BClinical%20Features%5D%20OR%208360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43987"><div><strong>Jaundice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43987</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.">C0022346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43987">Feature record</a> | <a href="/medgen?term=%22Jaundice%22%5BClinical%20Features%5D%20OR%2043987%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7368"><div><strong>Cirrhosis of liver</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7368</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.">C0023890</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7368">Feature record</a> | <a href="/medgen?term=%22Cirrhosis%20of%20liver%22%5BClinical%20Features%5D%20OR%207368%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45030"><div><strong>Giant cell hepatitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45030</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.">C0027613</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45030">Feature record</a> | <a href="/medgen?term=%22Giant%20cell%20hepatitis%22%5BClinical%20Features%5D%20OR%2045030%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20948"><div><strong>Steatorrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20948</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038238</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20948">Feature record</a> | <a href="/medgen?term=%22Steatorrhea%22%5BClinical%20Features%5D%20OR%2020948%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_88444"><div><strong>Liver failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88444</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.">C0085605</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/88444">Feature record</a> | <a href="/medgen?term=%22Liver%20failure%22%5BClinical%20Features%5D%20OR%2088444%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108215"><div><strong>Fat malabsorption</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108215</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.">C0554103</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormality of the absorption of fat from the gastrointestinal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108215">Feature record</a> | <a href="/medgen?term=%22Fat%20malabsorption%22%5BClinical%20Features%5D%20OR%20108215%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_436478"><div><strong>Acholic stools</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436478</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.">C2675627</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clay colored stools lacking bile pigment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436478">Feature record</a> | <a href="/medgen?term=%22Acholic%20stools%22%5BClinical%20Features%5D%20OR%20436478%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_604"><div><strong>Abnormality of the coagulation cascade</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>604</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.">C0005779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/604">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20coagulation%20cascade%22%5BClinical%20Features%5D%20OR%20604%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48470"><div><strong>Rickets</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48470</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.">C0035579</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48470">Feature record</a> | <a href="/medgen?term=%22Rickets%22%5BClinical%20Features%5D%20OR%2048470%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</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.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57479"><div><strong>Hypocholesterolemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57479</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.">C0151718</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An decreased concentration of cholesterol in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57479">Feature record</a> | <a href="/medgen?term=%22Hypocholesterolemia%22%5BClinical%20Features%5D%20OR%2057479%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116013"><div><strong>Elevated circulating hepatic transaminase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116013</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.">C0235996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116013">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20hepatic%20transaminase%20concentration%22%5BClinical%20Features%5D%20OR%20116013%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82787"><div><strong>Conjugated hyperbilirubinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82787</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.">C0268307</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally high level of conjugated bilirubin in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82787">Feature record</a> | <a href="/medgen?term=%22Conjugated%20hyperbilirubinemia%22%5BClinical%20Features%5D%20OR%2082787%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1864267"><div><strong>Reduced C27 3beta-HSD activity in cultured fibroblasts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1864267</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.">C5937546</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration or activity of 3beta-hydroxy-delta5-C27-steroid oxidoreductase (C27 3beta-HSD) as measured in cultured fibroblasts is below the limits of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1864267">Feature record</a> | <a href="/medgen?term=%22Reduced%20C27%203beta-HSD%20activity%20in%20cultured%20fibroblasts%22%5BClinical%20Features%5D%20OR%201864267%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_604" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the coagulation cascade</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conjugated hyperbilirubinemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating hepatic transaminase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypocholesterolemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1864267" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced C27 3beta-HSD activity in cultured fibroblasts</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_436478" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acholic stools</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cirrhosis of liver</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108215" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fat malabsorption</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45030" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Giant cell hepatitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intrahepatic cholestasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jaundice</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88444" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Liver failure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Steatorrhea</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rickets</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</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=C1843116[DISCUI]&test_type=Clinical" ref="ncbi_uid=335883">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335883" target="_blank" href="/omim/607764">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK584020/" ref="ncbi_uid=335883">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335883" ref="ncbi_uid=335883">V</a></span></span><span class="TLline">Congenital bile acid synthesis defect 1</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1826069" ref="tree=MeSH" title="MedGen record for Congenital bile acid synthesis defect">Congenital bile acid synthesis defect</a></span><ul><li><span class="matched_ds">Congenital bile acid synthesis defect 1</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=11327&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Congenital bile acid synthesis defect 1</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37037297">The value of lipid metabolites 9,10-DOA and 11,12-EET in prenatal diagnosis of fetal heart defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang Y,
|
||
Zhang Z,
|
||
Zhao Y,
|
||
Sun G,
|
||
Peng M,
|
||
Liu C,
|
||
Yi G,
|
||
Zhao K,
|
||
Yang H</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2023 Apr 1;544:117330.
|
||
Epub 2023 Apr 8
|
||
doi: 10.1016/j.cca.2023.117330.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37037297" target="_blank">37037297</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3083086">Essential fatty acid deficiency in congenital biliary atresia: successful treatment to reverse deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyano T,
|
||
Yamashiro Y,
|
||
Shimizu T,
|
||
Arai T,
|
||
Suruga T,
|
||
Hayasawa H</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
1986 Mar;21(3):277-81.
|
||
doi: 10.1016/s0022-3468(86)80854-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3083086" target="_blank">3083086</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4971054">Chronic cholangitides: aetiology, diagnosis, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sherlock S</span><br />
|
||
<span class="medgenPMjournal">Br Med J</span>
|
||
1968 Aug 31;3(5617):515-21.
|
||
doi: 10.1136/bmj.3.5617.515.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4971054" target="_blank">4971054</a><a href="/pmc/articles/PMC1986450" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20bile%20acid%20synthesis%20defect%201)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37756114">Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kavallar AM,
|
||
Mayerhofer C,
|
||
Aldrian D,
|
||
Okamoto T,
|
||
Müller T,
|
||
Vogel GF</span><br />
|
||
<span class="medgenPMjournal">Hepatol Commun</span>
|
||
2023 Oct 1;7(10)
|
||
Epub 2023 Sep 27
|
||
doi: 10.1097/HC9.0000000000000286.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37756114" target="_blank">37756114</a><a href="/pmc/articles/PMC10531212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36373961">Statins for Smith-Lemli-Opitz syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ballout RA,
|
||
Livinski A,
|
||
Fu YP,
|
||
Steiner RD,
|
||
Remaley AT</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 Nov 14;11(11):CD013521.
|
||
doi: 10.1002/14651858.CD013521.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36373961" target="_blank">36373961</a><a href="/pmc/articles/PMC9661876" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14994122">Biliary atresia revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kahn E</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2004 Mar-Apr;7(2):109-24.
|
||
Epub 2004 Mar 4
|
||
doi: 10.1007/s10024-003-0307-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14994122" target="_blank">14994122</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10975791">Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colombo C,
|
||
Okolicsanyi L,
|
||
Strazzabosco M</span><br />
|
||
<span class="medgenPMjournal">Dig Liver Dis</span>
|
||
2000 Mar;32(2):152-9.
|
||
doi: 10.1016/s1590-8658(00)80403-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10975791" target="_blank">10975791</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6836332">Familial unconjugated hyperbilirubinemia syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reichen J</span><br />
|
||
<span class="medgenPMjournal">Semin Liver Dis</span>
|
||
1983 Feb;3(1):24-35.
|
||
doi: 10.1055/s-2008-1040668.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6836332" target="_blank">6836332</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20bile%20acid%20synthesis%20defect%201%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 (16)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38090248">Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Housni S,
|
||
Al-Thihli K,
|
||
Rahmatalla D,
|
||
Wali Y,
|
||
Al Rawahi Y</span><br />
|
||
<span class="medgenPMjournal">Sultan Qaboos Univ Med J</span>
|
||
2023 Nov;23(4):543-546.
|
||
Epub 2023 Nov 30
|
||
doi: 10.18295/squmj.8.2022.052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38090248" target="_blank">38090248</a><a href="/pmc/articles/PMC10712380" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36373961">Statins for Smith-Lemli-Opitz syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ballout RA,
|
||
Livinski A,
|
||
Fu YP,
|
||
Steiner RD,
|
||
Remaley AT</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 Nov 14;11(11):CD013521.
|
||
doi: 10.1002/14651858.CD013521.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36373961" target="_blank">36373961</a><a href="/pmc/articles/PMC9661876" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21531191">Acute liver failure in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Devictor D,
|
||
Tissieres P,
|
||
Afanetti M,
|
||
Debray D</span><br />
|
||
<span class="medgenPMjournal">Clin Res Hepatol Gastroenterol</span>
|
||
2011 Jun;35(6-7):430-7.
|
||
Epub 2011 Apr 30
|
||
doi: 10.1016/j.clinre.2011.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21531191" target="_blank">21531191</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14994122">Biliary atresia revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kahn E</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2004 Mar-Apr;7(2):109-24.
|
||
Epub 2004 Mar 4
|
||
doi: 10.1007/s10024-003-0307-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14994122" target="_blank">14994122</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6836332">Familial unconjugated hyperbilirubinemia syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reichen J</span><br />
|
||
<span class="medgenPMjournal">Semin Liver Dis</span>
|
||
1983 Feb;3(1):24-35.
|
||
doi: 10.1055/s-2008-1040668.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6836332" target="_blank">6836332</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20bile%20acid%20synthesis%20defect%201%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 (22)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37756114">Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kavallar AM,
|
||
Mayerhofer C,
|
||
Aldrian D,
|
||
Okamoto T,
|
||
Müller T,
|
||
Vogel GF</span><br />
|
||
<span class="medgenPMjournal">Hepatol Commun</span>
|
||
2023 Oct 1;7(10)
|
||
Epub 2023 Sep 27
|
||
doi: 10.1097/HC9.0000000000000286.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37756114" target="_blank">37756114</a><a href="/pmc/articles/PMC10531212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36373961">Statins for Smith-Lemli-Opitz syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ballout RA,
|
||
Livinski A,
|
||
Fu YP,
|
||
Steiner RD,
|
||
Remaley AT</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 Nov 14;11(11):CD013521.
|
||
doi: 10.1002/14651858.CD013521.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36373961" target="_blank">36373961</a><a href="/pmc/articles/PMC9661876" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31369200">Assessing hepatic impairment in Fontan-associated liver disease using the HepQuant SHUNT test.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lemmer A,
|
||
VanWagner L,
|
||
Gasanova Z,
|
||
Helmke S,
|
||
Everson GT,
|
||
Ganger D</span><br />
|
||
<span class="medgenPMjournal">Congenit Heart Dis</span>
|
||
2019 Nov;14(6):978-986.
|
||
Epub 2019 Aug 1
|
||
doi: 10.1111/chd.12831.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31369200" target="_blank">31369200</a><a href="/pmc/articles/PMC7102438" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30373615">Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gonzales E,
|
||
Matarazzo L,
|
||
Franchi-Abella S,
|
||
Dabadie A,
|
||
Cohen J,
|
||
Habes D,
|
||
Hillaire S,
|
||
Guettier C,
|
||
Taburet AM,
|
||
Myara A,
|
||
Jacquemin E</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2018 Oct 29;13(1):190.
|
||
doi: 10.1186/s13023-018-0920-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30373615" target="_blank">30373615</a><a href="/pmc/articles/PMC6206929" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23399721">Metabolic improvements in intrahepatic porto-systemic venous shunt presenting various metabolic abnormalities by 4-phenylacetate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagasaka H,
|
||
Miida T,
|
||
Yorifuji T,
|
||
Hirano K,
|
||
Inui A,
|
||
Fujisawa T,
|
||
Tsukahara H,
|
||
Hayashi H,
|
||
Inomata Y</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2013 Apr 18;419:52-6.
|
||
Epub 2013 Feb 8
|
||
doi: 10.1016/j.cca.2013.01.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23399721" target="_blank">23399721</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20bile%20acid%20synthesis%20defect%201%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35313986">Characteristics of SOX9-positive progenitor-like cells during cholestatic liver regeneration in biliary atresia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin Y,
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<span class="bold">PMID: </span><a href="/pubmed/35313986" target="_blank">35313986</a><a href="/pmc/articles/PMC8935712" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31369200">Assessing hepatic impairment in Fontan-associated liver disease using the HepQuant SHUNT test.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lemmer A,
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<div class="nl"><a target="_blank" href="/pubmed/29238877">Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/29238877" target="_blank">29238877</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21119543">Diagnosis of Alagille syndrome-25 years of experience at King's College Hospital.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Subramaniam P,
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<div class="nl"><a target="_blank" href="/pubmed/15383928">Bile acid synthetic defects and liver disease: a comprehensive review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bove KE,
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Heubi JE,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20bile%20acid%20synthesis%20defect%201%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 (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37675889">Outcomes of pediatric liver transplantation for progressive familial intrahepatic cholestasis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vasudevan AK,
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Shanmugam N,
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Rammohan A,
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2023 Dec;27(8):e14600.
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<span class="bold">PMID: </span><a href="/pubmed/37675889" target="_blank">37675889</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/37037297">The value of lipid metabolites 9,10-DOA and 11,12-EET in prenatal diagnosis of fetal heart defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang Y,
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Zhang Z,
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Zhao Y,
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Sun G,
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Peng M,
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Liu C,
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Yi G,
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Zhao K,
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Yang H</span><br />
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<span class="medgenPMjournal">Clin Chim Acta</span>
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2023 Apr 1;544:117330.
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Epub 2023 Apr 8
|
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doi: 10.1016/j.cca.2023.117330.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37037297" target="_blank">37037297</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/35313986">Characteristics of SOX9-positive progenitor-like cells during cholestatic liver regeneration in biliary atresia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lin Y,
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Zhang F,
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Zhang L,
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Chen L,
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Zheng S</span><br />
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<span class="medgenPMjournal">Stem Cell Res Ther</span>
|
||
2022 Mar 21;13(1):114.
|
||
doi: 10.1186/s13287-022-02795-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35313986" target="_blank">35313986</a><a href="/pmc/articles/PMC8935712" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30373615">Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Gonzales E,
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Matarazzo L,
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Franchi-Abella S,
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Dabadie A,
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Cohen J,
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Habes D,
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Hillaire S,
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Guettier C,
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Taburet AM,
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Myara A,
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Jacquemin E</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2018 Oct 29;13(1):190.
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||
doi: 10.1186/s13023-018-0920-5.
|
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<span class="bold">PMID: </span><a href="/pubmed/30373615" target="_blank">30373615</a><a href="/pmc/articles/PMC6206929" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26628447">Serum Autotaxin Activity Correlates With Pruritus in Pediatric Cholestatic Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kremer AE,
|
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Gonzales E,
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Schaap FG,
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||
Oude Elferink RP,
|
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Jacquemin E,
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Beuers U</span><br />
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<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
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2016 Apr;62(4):530-5.
|
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doi: 10.1097/MPG.0000000000001044.
|
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<span class="bold">PMID: </span><a href="/pubmed/26628447" target="_blank">26628447</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20bile%20acid%20synthesis%20defect%201%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 (10)</a></div></div>
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||
<div class="portlet mgSection" id="ID_104">
|
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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>
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||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37756114">Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kavallar AM,
|
||
Mayerhofer C,
|
||
Aldrian D,
|
||
Okamoto T,
|
||
Müller T,
|
||
Vogel GF</span><br />
|
||
<span class="medgenPMjournal">Hepatol Commun</span>
|
||
2023 Oct 1;7(10)
|
||
Epub 2023 Sep 27
|
||
doi: 10.1097/HC9.0000000000000286.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37756114" target="_blank">37756114</a><a href="/pmc/articles/PMC10531212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/36373961">Statins for Smith-Lemli-Opitz syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ballout RA,
|
||
Livinski A,
|
||
Fu YP,
|
||
Steiner RD,
|
||
Remaley AT</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 Nov 14;11(11):CD013521.
|
||
doi: 10.1002/14651858.CD013521.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36373961" target="_blank">36373961</a><a href="/pmc/articles/PMC9661876" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20bile%20acid%20synthesis%20defect%201%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 (2)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1843116%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (15)</a></li>
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<li><a href="/gtr/tests?term=C1843116%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (23)</a></li>
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<li><a href="/gtr/tests?term=C1843116%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1843116%5bDISCUI%5d" target="_blank">See all (25)</a></total></li>
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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=(congenital%20bile%20acid%20synthesis%20defect%201)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc3308a68b6b5afca1bb51">C1843116[conceptid] <span class="number">(1)</span></a>
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