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<meta name="keywords" content="C2751306, adult polycystic kidney disease type 2, adult type polycystic kidney disease type 2, apkd2, autosomal dominant polycystic kidney disease caused by mutation in pkd2, autosomal dominant polycystic kidney disease type 2, disease or syndrome, pkd2, pkd2 - polycystic kidney disease 2, pkd2 autosomal dominant polycystic kidney disease, polycystic kidney disease 2, polycystic kidney disease 2 with or without polycystic liver disease, polycystic kidney disease 2, autosomal dominant, polycystic kidney disease type 2, polycystic kidney disease, adult type 2, polycystic kidney disease, adult, type 2, polycystic kidney disease, adult, type ii, polycystic kidney disease, type 2, polycystic kidney, type 2 autosomal dominant disease, 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="Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=442699
|
||
ConceptID=C2751306
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Polycystic kidney disease 2<span class="h1sub">(PKD2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442699</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:">C2751306</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>PKD2; POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; Polycystic Kidney Disease 2, Autosomal Dominant; POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE II</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Adult type polycystic kidney disease type 2 (253879006); PKD2 - Polycystic kidney disease 2 (253879006); Autosomal dominant polycystic kidney disease type 2 (253879006)</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="PKD2 - ID: 5311 - NCBI Gene" href="/gene/5311" class="medgenPMinfo">PKD2</a> (4q22.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013131" target="_blank">MONDO:0013131</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613095" target="_blank">613095</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>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1246" target="_blank">Polycystic Kidney Disease, Autosomal Dominant</a></div><div>Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Summary" target="NBK1246">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Diagnosis" target="NBK1246">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Clinical_Characteristics" target="NBK1246">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Genetically_Related_Allelic_Disor" target="NBK1246">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Differential_Diagnosis" target="NBK1246">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Management" target="NBK1246">Management</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Genetic_Counseling" target="NBK1246">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Resources" target="NBK1246">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Molecular_Genetics" target="NBK1246">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Chapter_Notes" target="NBK1246">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.References" target="NBK1246">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Peter C Harris | Vicente E Torres <a href="/books/NBK1246" target="NBK1246" title="NCBI Bookshelf: Polycystic Kidney Disease, Autosomal Dominant">view full author information</a></div></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 />Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.<br /><br />Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture.<br /><br />The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy. <a target="_blank" href="https://medlineplus.gov/genetics/condition/polycystic-kidney-disease">https://medlineplus.gov/genetics/condition/polycystic-kidney-disease</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_9639"><div><strong>Polycystic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9639</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.">C0022680</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of multiple cysts in both kidneys.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9639">Feature record</a> | <a href="/medgen?term=%22Polycystic%20kidney%20disease%22%5BClinical%20Features%5D%20OR%209639%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120466"><div><strong>Recurrent urinary tract infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120466</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.">C0262655</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Repeated infections of the urinary tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120466">Feature record</a> | <a href="/medgen?term=%22Recurrent%20urinary%20tract%20infections%22%5BClinical%20Features%5D%20OR%20120466%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140917"><div><strong>Multiple renal cysts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140917</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.">C0431718</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of many cysts in the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140917">Feature record</a> | <a href="/medgen?term=%22Multiple%20renal%20cysts%22%5BClinical%20Features%5D%20OR%20140917%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332529"><div><strong>Renal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332529</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.">C1565489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332529">Feature record</a> | <a href="/medgen?term=%22Renal%20insufficiency%22%5BClinical%20Features%5D%20OR%20332529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_384526"><div><strong>Stage 5 chronic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384526</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.">C2316810</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/384526">Feature record</a> | <a href="/medgen?term=%22Stage%205%20chronic%20kidney%20disease%22%5BClinical%20Features%5D%20OR%20384526%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4255"><div><strong>Dextrocardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4255</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.">C0011813</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4255">Feature record</a> | <a href="/medgen?term=%22Dextrocardia%22%5BClinical%20Features%5D%20OR%204255%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</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.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1642262"><div><strong>Situs inversus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642262</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.">C4551493</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642262">Feature record</a> | <a href="/medgen?term=%22Situs%20inversus%22%5BClinical%20Features%5D%20OR%201642262%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_82761"><div><strong>Hepatic cysts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82761</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.">C0267834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cystic lesion located in the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82761">Feature record</a> | <a href="/medgen?term=%22Hepatic%20cysts%22%5BClinical%20Features%5D%20OR%2082761%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5712"><div><strong>Hypokalemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5712</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.">C0020621</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased potassium concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5712">Feature record</a> | <a href="/medgen?term=%22Hypokalemia%22%5BClinical%20Features%5D%20OR%205712%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65916"><div><strong>Elevated circulating alpha-fetoprotein concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65916</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.">C0235971</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65916">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20alpha-fetoprotein%20concentration%22%5BClinical%20Features%5D%20OR%2065916%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_148579"><div><strong>Elevated circulating creatinine concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148579</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.">C0700225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased amount of creatinine in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/148579">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatinine%20concentration%22%5BClinical%20Features%5D%20OR%20148579%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_727252"><div><strong>Elevated circulating alkaline phosphatase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>727252</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.">C1314665</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased serum levels of alkaline phosphatase activity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/727252">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20alkaline%20phosphatase%20concentration%22%5BClinical%20Features%5D%20OR%20727252%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1370086"><div><strong>Elevated gamma-glutamyltransferase level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1370086</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.">C4476869</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1370086">Feature record</a> | <a href="/medgen?term=%22Elevated%20gamma-glutamyltransferase%20level%22%5BClinical%20Features%5D%20OR%201370086%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_266298"><div><strong>Facial asymmetry</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266298</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.">C1306710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal difference between the left and right sides of the face.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/266298">Feature record</a> | <a href="/medgen?term=%22Facial%20asymmetry%22%5BClinical%20Features%5D%20OR%20266298%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339938"><div><strong>Midface retrusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339938</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.">C1853242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339938">Feature record</a> | <a href="/medgen?term=%22Midface%20retrusion%22%5BClinical%20Features%5D%20OR%20339938%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_266298" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Facial asymmetry</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Midface retrusion</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_727252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating alkaline phosphatase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating alpha-fetoprotein concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_148579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatinine concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1370086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated gamma-glutamyltransferase level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5712" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypokalemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dextrocardia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1642262" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Situs inversus</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_82761" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic cysts</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_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></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple renal cysts</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic kidney disease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120466" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent urinary tract infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal insufficiency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_384526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stage 5 chronic kidney disease</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></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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0085413[DISCUI]&test_type=Clinical" ref="ncbi_uid=88404">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0085413[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=88404">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=88404" target="_blank" href="/omim/173900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1246/" ref="ncbi_uid=88404">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=88404" ref="ncbi_uid=88404">V</a></span></span><span class="TLline"><a href="/medgen/88404" ref="tree=GTR&ncbi_uid=88404&link_uid=88404" title="View MedGen record for 'Autosomal dominant polycystic kidney disease'">Autosomal dominant polycystic kidney disease</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751306[DISCUI]&test_type=Clinical" ref="ncbi_uid=442699">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442699" target="_blank" href="/omim/173910">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1246/" ref="ncbi_uid=442699">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=442699" ref="ncbi_uid=442699">V</a></span></span><span class="TLline">Polycystic kidney disease 2</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3887964[DISCUI]&test_type=Clinical" ref="ncbi_uid=854672">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854672" target="_blank" href="/omim/104160">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1246/" ref="ncbi_uid=854672">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854672" ref="ncbi_uid=854672">V</a></span></span><span class="TLline"><a href="/medgen/854672" ref="tree=GTR&ncbi_uid=854672&link_uid=854672" title="View MedGen record for 'Polycystic kidney disease 3 with or without polycystic liver disease'">Polycystic kidney disease 3 with or without polycystic liver disease</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3149841[DISCUI]&test_type=Clinical" ref="ncbi_uid=461191">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=461191" target="_blank" href="/omim/173900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1246/" ref="ncbi_uid=461191">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=461191" ref="ncbi_uid=461191">V</a></span></span><span class="TLline"><a href="/medgen/461191" ref="tree=GTR&ncbi_uid=461191&link_uid=461191" title="View MedGen record for 'Polycystic kidney disease, adult type'">Polycystic kidney disease, adult type</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842297" ref="tree=MeSH" title="MedGen record for Familial cystic renal disease">Familial cystic renal disease</a></span><ul><li><span class="TLline"><a href="/medgen/88404" ref="tree=MeSH" title="MedGen record for Autosomal dominant polycystic kidney disease">Autosomal dominant polycystic kidney disease</a></span><ul><li><span class="matched_ds">Polycystic kidney disease 2</span></li></ul></li></ul></li></ul></div></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/11829141">Genotypes of autosomal dominant polycystic kidney disease in Japanese.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mizoguchi M,
|
||
Tamura T,
|
||
Yamaki A,
|
||
Higashihara E,
|
||
Shimizu Y</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2002;47(1):51-4.
|
||
doi: 10.1007/s10038-002-8654-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11829141" target="_blank">11829141</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9037946">A study on fetal urinary tract anomaly: antenatal ultrasonographic diagnosis and postnatal follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim EK,
|
||
Song TB</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol Res</span>
|
||
1996 Dec;22(6):569-73.
|
||
doi: 10.1111/j.1447-0756.1996.tb01072.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9037946" target="_blank">9037946</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22polycystic%20kidney%20disease%202%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 (2)</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/33039432">Ciliopathies and the Kidney: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McConnachie DJ,
|
||
Stow JL,
|
||
Mallett AJ</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2021 Mar;77(3):410-419.
|
||
Epub 2020 Oct 9
|
||
doi: 10.1053/j.ajkd.2020.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33039432" target="_blank">33039432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31740684">Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim H,
|
||
Park HC,
|
||
Ryu H,
|
||
Kim H,
|
||
Lee HS,
|
||
Heo J,
|
||
Lee C,
|
||
Kim NKD,
|
||
Park WY,
|
||
Hwang YH,
|
||
Lee KB,
|
||
Oh KH,
|
||
Oh YK,
|
||
Ahn C</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2019 Nov 18;9(1):16952.
|
||
doi: 10.1038/s41598-019-52474-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31740684" target="_blank">31740684</a><a href="/pmc/articles/PMC6861305" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29038287">Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cornec-Le Gall E,
|
||
Torres VE,
|
||
Harris PC</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2018 Jan;29(1):13-23.
|
||
Epub 2017 Oct 16
|
||
doi: 10.1681/ASN.2017050483.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29038287" target="_blank">29038287</a><a href="/pmc/articles/PMC5748917" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18945943">Unified criteria for ultrasonographic diagnosis of ADPKD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pei Y,
|
||
Obaji J,
|
||
Dupuis A,
|
||
Paterson AD,
|
||
Magistroni R,
|
||
Dicks E,
|
||
Parfrey P,
|
||
Cramer B,
|
||
Coto E,
|
||
Torra R,
|
||
San Millan JL,
|
||
Gibson R,
|
||
Breuning M,
|
||
Peters D,
|
||
Ravine D</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2009 Jan;20(1):205-12.
|
||
Epub 2008 Oct 22
|
||
doi: 10.1681/ASN.2008050507.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18945943" target="_blank">18945943</a><a href="/pmc/articles/PMC2615723" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18193640">TRP channels in disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jordt SE,
|
||
Ehrlich BE</span><br />
|
||
<span class="medgenPMjournal">Subcell Biochem</span>
|
||
2007;45:253-71.
|
||
doi: 10.1007/978-1-4020-6191-2_9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18193640" target="_blank">18193640</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycystic%20kidney%20disease%202%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 (123)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33437033">Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mallawaarachchi AC,
|
||
Lundie B,
|
||
Hort Y,
|
||
Schonrock N,
|
||
Senum SR,
|
||
Gayevskiy V,
|
||
Minoche AE,
|
||
Hollway G,
|
||
Ohnesorg T,
|
||
Hinchcliffe M,
|
||
Patel C,
|
||
Tchan M,
|
||
Mallett A,
|
||
Dinger ME,
|
||
Rangan G,
|
||
Cowley MJ,
|
||
Harris PC,
|
||
Burnett L,
|
||
Shine J,
|
||
Furlong TJ</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2021 May;29(5):760-770.
|
||
Epub 2021 Jan 12
|
||
doi: 10.1038/s41431-020-00796-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33437033" target="_blank">33437033</a><a href="/pmc/articles/PMC8110527" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31740684">Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim H,
|
||
Park HC,
|
||
Ryu H,
|
||
Kim H,
|
||
Lee HS,
|
||
Heo J,
|
||
Lee C,
|
||
Kim NKD,
|
||
Park WY,
|
||
Hwang YH,
|
||
Lee KB,
|
||
Oh KH,
|
||
Oh YK,
|
||
Ahn C</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2019 Nov 18;9(1):16952.
|
||
doi: 10.1038/s41598-019-52474-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31740684" target="_blank">31740684</a><a href="/pmc/articles/PMC6861305" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29038287">Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cornec-Le Gall E,
|
||
Torres VE,
|
||
Harris PC</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2018 Jan;29(1):13-23.
|
||
Epub 2017 Oct 16
|
||
doi: 10.1681/ASN.2017050483.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29038287" target="_blank">29038287</a><a href="/pmc/articles/PMC5748917" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26530876">Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2016.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chebib FT,
|
||
Torres VE</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2016 May;67(5):792-810.
|
||
Epub 2015 Oct 31
|
||
doi: 10.1053/j.ajkd.2015.07.037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26530876" target="_blank">26530876</a><a href="/pmc/articles/PMC4837006" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22508176">Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Audrézet MP,
|
||
Cornec-Le Gall E,
|
||
Chen JM,
|
||
Redon S,
|
||
Quéré I,
|
||
Creff J,
|
||
Bénech C,
|
||
Maestri S,
|
||
Le Meur Y,
|
||
Férec C</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2012 Aug;33(8):1239-50.
|
||
Epub 2012 May 24
|
||
doi: 10.1002/humu.22103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22508176" target="_blank">22508176</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycystic%20kidney%20disease%202%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 (156)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27553994">Recent advances in autosomal-dominant polycystic kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rangan GK,
|
||
Tchan MC,
|
||
Tong A,
|
||
Wong AT,
|
||
Nankivell BJ</span><br />
|
||
<span class="medgenPMjournal">Intern Med J</span>
|
||
2016 Aug;46(8):883-92.
|
||
doi: 10.1111/imj.13143.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27553994" target="_blank">27553994</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26530876">Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2016.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chebib FT,
|
||
Torres VE</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2016 May;67(5):792-810.
|
||
Epub 2015 Oct 31
|
||
doi: 10.1053/j.ajkd.2015.07.037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26530876" target="_blank">26530876</a><a href="/pmc/articles/PMC4837006" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23538311">Polycystic kidney disease: new horizons and therapeutic frontiers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Czarnecki PG,
|
||
Steinman TI</span><br />
|
||
<span class="medgenPMjournal">Minerva Urol Nefrol</span>
|
||
2013 Mar;65(1):61-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23538311" target="_blank">23538311</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20798121">Autosomal dominant polycystic kidney disease and mTOR inhibitors: the narrow road between hope and disappointment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ponticelli C,
|
||
Locatelli F</span><br />
|
||
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<div class="nl"><a target="_blank" href="/pubmed/26150605">The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33437033">Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mallawaarachchi AC,
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Lundie B,
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Hort Y,
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Schonrock N,
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Senum SR,
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Gayevskiy V,
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Minoche AE,
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Hollway G,
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Ohnesorg T,
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<div class="portlet_content ln"><span class="medgenPMauthor">Cornec-Le Gall E,
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Audrézet MP,
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Rousseau A,
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Hourmant M,
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Renaudineau E,
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Charasse C,
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Morin MP,
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Moal MC,
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Dantal J,
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Wehbe B,
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Perrichot R,
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Frouget T,
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Vigneau C,
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Potier J,
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Jousset P,
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Guillodo MP,
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Siohan P,
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Terki N,
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Sawadogo T,
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Legrand D,
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Menoyo-Calonge V,
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Benarbia S,
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Besnier D,
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Longuet H,
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Férec C,
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Le Meur Y</span><br />
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Audrézet MP,
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Chen JM,
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Hourmant M,
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Morin MP,
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Perrichot R,
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Charasse C,
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Whebe B,
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Renaudineau E,
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Jousset P,
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Guillodo MP,
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Grall-Jezequel A,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycystic%20kidney%20disease%202%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 (144)</a></div></div>
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</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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/24925719">Predictors of autosomal dominant polycystic kidney disease progression.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Schrier RW,
|
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Brosnahan G,
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Cadnapaphornchai MA,
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Chonchol M,
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Friend K,
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Gitomer B,
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Rossetti S</span><br />
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2014 Nov;25(11):2399-418.
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Epub 2014 Jun 12
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<span class="bold">PMID: </span><a href="/pubmed/24925719" target="_blank">24925719</a><a href="/pmc/articles/PMC4214531" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycystic%20kidney%20disease%202%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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</div>
|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2751306%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (39)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751306%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (57)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751306%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (13)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2751306%5bDISCUI%5d" target="_blank">See all (64)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=613095" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Polycystic%20kidney%20disease%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22polycystic%20kidney%20disease%202%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(%22Polycystic%20kidney%20disease%202%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=173910" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5311[geneid]" target="_blank">View PKD2 variations in ClinVar</a></li><li><a href="/nuccore/205277388" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=613095" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/polycystic_kidney_disease_2_with_or_without_polycystic_liver_disease" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Polycystic%20kidney%20disease%202" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/polycystic-kidney-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18599/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/20301424" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
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|
||
<a href="/pubmed/clinical?term=Polycystic%20kidney%20disease%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Polycystic%20kidney%20disease%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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||
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<div class="portlet brieflink">
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=442699" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=442699" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2751306[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2751306[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=442699" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=442699" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=442699" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=442699" ref="log$=recordlinks">PubMed (OMIM)</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
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|
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|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d516fe84f3725e591b1ef6">Polycystic kidney disease 2</a>
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<div class="ralinkpop offscreen_noflow">Polycystic kidney disease 2<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d516d184f3725e591a6279">Polycystic Kidney Disease, Autosomal Dominant - GeneReviews®</a>
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<div class="tertiary"></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d516d067c23b31e09377f2">Table 9. [Notable PKD1 Pathogenic Variants]. - GeneReviews®</a>
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<div class="ralinkpop offscreen_noflow">Table 9. [Notable PKD1 Pathogenic Variants]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
|
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<div class="tertiary"></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d516cfcde49f3df7bbc61c">Table B. [OMIM Entries for Polycystic Kidney Disease, Autosomal Dominant (View A...</a>
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<div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for Polycystic Kidney Disease, Autosomal Dominant (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d516b52f30673f7bd8c054">RecName: Full=Polycystin-2; Short=PC2; AltName: Full=Autosomal dominant polycyst...</a>
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<div class="ralinkpop offscreen_noflow">RecName: Full=Polycystin-2; Short=PC2; AltName: Full=Autosomal dominant polycystic kidney disease type II protein; AltName: Full=Polycystic kidney disease 2 protein; AltName: Full=Polycystwin; AltName: Full=R48321; AltName: Full=Transient receptor potential cation channel subfamily P member 2<div class="brieflinkpopdesc">gi|116242717|sp|Q13563.3|PKD2_HUMAN</div></div>
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<div class="tertiary">Protein</div>
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