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<meta name="keywords" content="C0266292, abnormal kidney, abnormal kidneys, abnormality of the kidney, congenital abnormality, congenital abnormality of kidney, congenital anomaly of kidney, congenital anomaly of the kidney, kidney abnormalities, kidney malformation, renal anomalies, renal anomaly, renal malformation, renal malformations, 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="An abnormality of the kidney." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=78593
ConceptID=C0266292
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the kidney</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78593</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)&#10;Click for more information.">C0266292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Abnormal kidneys; Kidney abnormalities; Kidney malformation; Renal anomalies; Renal anomaly; Renal malformation; Renal malformations</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Congenital anomaly of kidney (44513007); Congenital abnormality of kidney (44513007); Congenital anomaly of the kidney (44513007)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000077">HP:0000077</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_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">An abnormality of the kidney. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0266292[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=78593">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=78593" ref="ncbi_uid=78593">V</a></span></span><span class="TLline">Abnormality of the kidney</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/867444" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system">Abnormality of the urinary system</a></span><ul><li><span class="TLline"><a href="/medgen/869219" ref="tree=MeSH" title="MedGen record for Abnormality of the upper urinary tract">Abnormality of the upper urinary tract</a></span><ul><li><span class="matched_ds">Abnormality of the kidney</span><ul><li><span class="TLline"><a href="/medgen/1633142" ref="tree=MeSH" title="MedGen record for Abnormal renal morphology">Abnormal renal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866621" ref="tree=MeSH" title="MedGen record for Abnormal localization of kidney">Abnormal localization of kidney</a></span><ul><li><span class="TLline"><a href="/medgen/68661" ref="tree=MeSH" title="MedGen record for Ectopic kidney">Ectopic kidney</a></span></li><li><span class="TLline"><a href="/medgen/65140" ref="tree=MeSH" title="MedGen record for Horseshoe kidney">Horseshoe kidney</a></span></li><li><span class="TLline"><a href="/medgen/488969" ref="tree=MeSH" title="MedGen record for Nephroptosis">Nephroptosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868444" ref="tree=MeSH" title="MedGen record for Abnormal nephron morphology">Abnormal nephron morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1623650" ref="tree=MeSH" title="MedGen record for Abnormal renal corpuscle morphology">Abnormal renal corpuscle morphology</a></span></li><li><span class="TLline"><a href="/medgen/867449" ref="tree=MeSH" title="MedGen record for Abnormal renal tubule morphology">Abnormal renal tubule morphology</a></span></li><li><span class="TLline"><a href="/medgen/436031" ref="tree=MeSH" title="MedGen record for Decreased numbers of nephrons">Decreased numbers of nephrons</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869104" ref="tree=MeSH" title="MedGen record for Abnormal renal calyx morphology">Abnormal renal calyx morphology</a></span><ul><li><span class="TLline"><a href="/medgen/226863" ref="tree=MeSH" title="MedGen record for Dilatation of renal calices">Dilatation of renal calices</a></span></li><li><span class="TLline"><a href="/medgen/1369414" ref="tree=MeSH" title="MedGen record for Polycalycosis">Polycalycosis</a></span></li><li><span class="TLline"><a href="/medgen/1369536" ref="tree=MeSH" title="MedGen record for Polygonal renal calices">Polygonal renal calices</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/342720" ref="tree=MeSH" title="MedGen record for Abnormal renal collecting system morphology">Abnormal renal collecting system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/346936" ref="tree=MeSH" title="MedGen record for Duplicated collecting system">Duplicated collecting system</a></span></li><li><span class="TLline"><a href="/medgen/746455" ref="tree=MeSH" title="MedGen record for Renal diverticulum">Renal diverticulum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869160" ref="tree=MeSH" title="MedGen record for Abnormal renal cortex morphology">Abnormal renal cortex morphology</a></span><ul><li><span class="TLline"><a href="/medgen/370605" ref="tree=MeSH" title="MedGen record for Renal cortical cysts">Renal cortical cysts</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1723255" ref="tree=MeSH" title="MedGen record for Abnormal renal echogenicity">Abnormal renal echogenicity</a></span><ul><li><span class="TLline"><a href="/medgen/477530" ref="tree=MeSH" title="MedGen record for Hyperechogenic kidneys">Hyperechogenic kidneys</a></span></li><li><span class="TLline"><a href="/medgen/1770764" ref="tree=MeSH" title="MedGen record for Renal cortical hyperechogenicity">Renal cortical hyperechogenicity</a></span></li><li><span class="TLline"><a href="/medgen/1721671" ref="tree=MeSH" title="MedGen record for Renal cortical hypoechogeneity">Renal cortical hypoechogeneity</a></span></li><li><span class="TLline"><a href="/medgen/1757337" ref="tree=MeSH" title="MedGen record for Renal medullary hyperechogenicity">Renal medullary hyperechogenicity</a></span></li><li><span class="TLline"><a href="/medgen/1863791" ref="tree=MeSH" title="MedGen record for Sonographic renal salt and pepper pattern">Sonographic renal salt and pepper pattern</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1713223" ref="tree=MeSH" title="MedGen record for Abnormal renal insterstitial morphology">Abnormal renal insterstitial morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892966" ref="tree=MeSH" title="MedGen record for Abnormal tubulointerstitial morphology">Abnormal tubulointerstitial morphology</a></span></li><li><span class="TLline"><a href="/medgen/1715286" ref="tree=MeSH" title="MedGen record for Renal interstitial calcium oxalate">Renal interstitial calcium oxalate</a></span></li><li><span class="TLline"><a href="/medgen/1709193" ref="tree=MeSH" title="MedGen record for Renal interstitial deposits">Renal interstitial deposits</a></span></li><li><span class="TLline"><a href="/medgen/1717178" ref="tree=MeSH" title="MedGen record for Renal interstitial edema">Renal interstitial edema</a></span></li><li><span class="TLline"><a href="/medgen/1713092" ref="tree=MeSH" title="MedGen record for Renal interstitial eosinophil infiltration">Renal interstitial eosinophil infiltration</a></span></li><li><span class="TLline"><a href="/medgen/68628" ref="tree=MeSH" title="MedGen record for Renal interstitial fibrosis">Renal interstitial fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/1713300" ref="tree=MeSH" title="MedGen record for Renal interstitial foam cells">Renal interstitial foam cells</a></span></li><li><span class="TLline"><a href="/medgen/1773529" ref="tree=MeSH" title="MedGen record for Renal interstitial globotriaosylceramide inclusions">Renal interstitial globotriaosylceramide inclusions</a></span></li><li><span class="TLline"><a href="/medgen/1710690" ref="tree=MeSH" title="MedGen record for Renal interstitial granulomas">Renal interstitial granulomas</a></span></li><li><span class="TLline"><a href="/medgen/1715002" ref="tree=MeSH" title="MedGen record for Renal interstitial hemorrhage">Renal interstitial hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/1731884" ref="tree=MeSH" title="MedGen record for Renal interstitial IgG4+ plasma cell infiltration">Renal interstitial IgG4+ plasma cell infiltration</a></span></li><li><span class="TLline"><a href="/medgen/1709714" ref="tree=MeSH" title="MedGen record for Renal interstitial inflammation">Renal interstitial inflammation</a></span></li><li><span class="TLline"><a href="/medgen/1713085" ref="tree=MeSH" title="MedGen record for Renal interstitial mononuclear cell infiltration">Renal interstitial mononuclear cell infiltration</a></span></li><li><span class="TLline"><a href="/medgen/1716314" ref="tree=MeSH" title="MedGen record for Renal interstitial neutrophil infiltration">Renal interstitial neutrophil infiltration</a></span></li><li><span class="TLline"><a href="/medgen/1718906" ref="tree=MeSH" title="MedGen record for Renal interstitial plasma cell infiltration">Renal interstitial plasma cell infiltration</a></span></li><li><span class="TLline"><a href="/medgen/1716614" ref="tree=MeSH" title="MedGen record for Renal interstitial xanthogranulomatous inflammation">Renal interstitial xanthogranulomatous inflammation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867528" ref="tree=MeSH" title="MedGen record for Abnormal renal medulla morphology">Abnormal renal medulla morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1368733" ref="tree=MeSH" title="MedGen record for Abnormal medullary pyramid morphology">Abnormal medullary pyramid morphology</a></span></li><li><span class="TLline"><a href="/medgen/870648" ref="tree=MeSH" title="MedGen record for Abnormal renal corticomedullary differentiation">Abnormal renal corticomedullary differentiation</a></span></li><li><span class="TLline"><a href="/medgen/892386" ref="tree=MeSH" title="MedGen record for Multiple small medullary renal cysts">Multiple small medullary renal cysts</a></span></li><li><span class="TLline"><a href="/medgen/146912" ref="tree=MeSH" title="MedGen record for Nephronophthisis">Nephronophthisis</a></span></li><li><span class="TLline"><a href="/medgen/409631" ref="tree=MeSH" title="MedGen record for Renal corticomedullary cysts">Renal corticomedullary cysts</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869211" ref="tree=MeSH" title="MedGen record for Abnormal renal pelvis morphology">Abnormal renal pelvis morphology</a></span><ul><li><span class="TLline"><a href="/medgen/574571" ref="tree=MeSH" title="MedGen record for Dilatation of the renal pelvis">Dilatation of the renal pelvis</a></span></li><li><span class="TLline"><a href="/medgen/374179" ref="tree=MeSH" title="MedGen record for Duplication of renal pelvis">Duplication of renal pelvis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1788964" ref="tree=MeSH" title="MedGen record for Abnormal renal vascular morphology">Abnormal renal vascular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1778359" ref="tree=MeSH" title="MedGen record for Abnormal intrarenal artery morphology">Abnormal intrarenal artery morphology</a></span></li><li><span class="TLline"><a href="/medgen/1779983" ref="tree=MeSH" title="MedGen record for Abnormal intrarenal vein morphology">Abnormal intrarenal vein morphology</a></span></li><li><span class="TLline"><a href="/medgen/1813989" ref="tree=MeSH" title="MedGen record for Abnormal peritubular capillary morphology">Abnormal peritubular capillary morphology</a></span></li><li><span class="TLline"><a href="/medgen/1814019" ref="tree=MeSH" title="MedGen record for Abnormal renal arteriole morphology">Abnormal renal arteriole morphology</a></span></li><li><span class="TLline"><a href="/medgen/508849" ref="tree=MeSH" title="MedGen record for Renal vasculitis">Renal vasculitis</a></span></li><li><span class="TLline"><a href="/medgen/472971" ref="tree=MeSH" title="MedGen record for Renal vein thrombosis">Renal vein thrombosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1368767" ref="tree=MeSH" title="MedGen record for Decreased renal parenchymal thickness">Decreased renal parenchymal thickness</a></span></li><li><span class="TLline"><a href="/medgen/108156" ref="tree=MeSH" title="MedGen record for Enlarged kidney">Enlarged kidney</a></span></li><li><span class="TLline"><a href="/medgen/508762" ref="tree=MeSH" title="MedGen record for Intrarenal abscess">Intrarenal abscess</a></span></li><li><span class="TLline"><a href="/medgen/10222" ref="tree=MeSH" title="MedGen record for Nephrocalcinosis">Nephrocalcinosis</a></span><ul><li><span class="TLline"><a href="/medgen/588417" ref="tree=MeSH" title="MedGen record for Cortical nephrocalcinosis">Cortical nephrocalcinosis</a></span></li><li><span class="TLline"><a href="/medgen/588418" ref="tree=MeSH" title="MedGen record for Medullary nephrocalcinosis">Medullary nephrocalcinosis</a></span></li><li><span class="TLline"><a href="/medgen/98014" ref="tree=MeSH" title="MedGen record for Microscopic nephrocalcinosis">Microscopic nephrocalcinosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/452962" ref="tree=MeSH" title="MedGen record for Nephrogenic rest">Nephrogenic rest</a></span><ul><li><span class="TLline"><a href="/medgen/452959" ref="tree=MeSH" title="MedGen record for Intralobar nephrogenic rest">Intralobar nephrogenic rest</a></span></li><li><span class="TLline"><a href="/medgen/452960" ref="tree=MeSH" title="MedGen record for Perilobar nephrogenic rest">Perilobar nephrogenic rest</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98227" ref="tree=MeSH" title="MedGen record for Nephrolithiasis">Nephrolithiasis</a></span><ul><li><span class="TLline"><a href="/medgen/344578" ref="tree=MeSH" title="MedGen record for Calcium nephrolithiasis">Calcium nephrolithiasis</a></span></li><li><span class="TLline"><a href="/medgen/1054715" ref="tree=MeSH" title="MedGen record for Cystine nephrolithiasis">Cystine nephrolithiasis</a></span></li><li><span class="TLline"><a href="/medgen/568794" ref="tree=MeSH" title="MedGen record for Staghorn calculus">Staghorn calculus</a></span></li><li><span class="TLline"><a href="/medgen/866709" ref="tree=MeSH" title="MedGen record for Struvite nephrolithiasis">Struvite nephrolithiasis</a></span></li><li><span class="TLline"><a href="/medgen/140791" ref="tree=MeSH" title="MedGen record for Uric acid nephrolithiasis">Uric acid nephrolithiasis</a></span></li><li><span class="TLline"><a href="/medgen/376358" ref="tree=MeSH" title="MedGen record for Xanthine nephrolithiasis">Xanthine nephrolithiasis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/14330" ref="tree=MeSH" title="MedGen record for Nephrosclerosis">Nephrosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/536780" ref="tree=MeSH" title="MedGen record for Perinephric abscess">Perinephric abscess</a></span></li><li><span class="TLline"><a href="/medgen/1627155" ref="tree=MeSH" title="MedGen record for Perinephric fluid collection">Perinephric fluid collection</a></span></li><li><span class="TLline"><a href="/medgen/633017" ref="tree=MeSH" title="MedGen record for Perirenal hematoma">Perirenal hematoma</a></span></li><li><span class="TLline"><a href="/medgen/120633" ref="tree=MeSH" title="MedGen record for Renal amyloidosis">Renal amyloidosis</a></span><ul><li><span class="TLline"><a href="/medgen/1711455" ref="tree=MeSH" title="MedGen record for Renal glomerular amyloid deposition">Renal glomerular amyloid deposition</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/574585" ref="tree=MeSH" title="MedGen record for Renal atrophy">Renal atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/868441" ref="tree=MeSH" title="MedGen record for Bilateral renal atrophy">Bilateral renal atrophy</a></span></li><li><span class="TLline"><a href="/medgen/871246" ref="tree=MeSH" title="MedGen record for Renal cortical atrophy">Renal cortical atrophy</a></span></li><li><span class="TLline"><a href="/medgen/316810" ref="tree=MeSH" title="MedGen record for Unilateral renal atrophy">Unilateral renal atrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/854361" ref="tree=MeSH" title="MedGen record for Renal cyst">Renal cyst</a></span><ul><li><span class="TLline"><a href="/medgen/852741" ref="tree=MeSH" title="MedGen record for Complex renal cyst">Complex renal cyst</a></span></li><li><span class="TLline"><a href="/medgen/322533" ref="tree=MeSH" title="MedGen record for Cystic renal dysplasia">Cystic renal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/811388" ref="tree=MeSH" title="MedGen record for Multicystic kidney dysplasia">Multicystic kidney dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/140917" ref="tree=MeSH" title="MedGen record for Multiple renal cysts">Multiple renal cysts</a></span></li><li><span class="TLline"><a href="/medgen/9639" ref="tree=MeSH" title="MedGen record for Polycystic kidney disease">Polycystic kidney disease</a></span></li><li><span class="TLline"><a href="/medgen/1709590" ref="tree=MeSH" title="MedGen record for Renal tubular cyst">Renal tubular cyst</a></span></li><li><span class="TLline"><a href="/medgen/78701" ref="tree=MeSH" title="MedGen record for Simple renal cyst">Simple renal cyst</a></span></li><li><span class="TLline"><a href="/medgen/868442" ref="tree=MeSH" title="MedGen record for Solitary Cyst of Kidney">Solitary Cyst of Kidney</a></span></li><li><span class="TLline"><a href="/medgen/760270" ref="tree=MeSH" title="MedGen record for Solitary Multilocular Kidney Cyst">Solitary Multilocular Kidney Cyst</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/488826" ref="tree=MeSH" title="MedGen record for Renal duplication">Renal duplication</a></span><ul><li><span class="TLline"><a href="/medgen/870196" ref="tree=MeSH" title="MedGen record for Partially duplicated kidney">Partially duplicated kidney</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/760690" ref="tree=MeSH" title="MedGen record for Renal dysplasia">Renal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/609101" ref="tree=MeSH" title="MedGen record for Bilateral renal dysplasia">Bilateral renal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/140916" ref="tree=MeSH" title="MedGen record for Unilateral renal dysplasia">Unilateral renal dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/508798" ref="tree=MeSH" title="MedGen record for Renal fibrosis">Renal fibrosis</a></span><ul><li><span class="TLline"><a href="/medgen/370652" ref="tree=MeSH" title="MedGen record for Tubulointerstitial fibrosis">Tubulointerstitial fibrosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/387822" ref="tree=MeSH" title="MedGen record for Renal hypoplasia/aplasia">Renal hypoplasia/aplasia</a></span><ul><li><span class="TLline"><a href="/medgen/154237" ref="tree=MeSH" title="MedGen record for Renal agenesis">Renal agenesis</a></span></li><li><span class="TLline"><a href="/medgen/120571" ref="tree=MeSH" title="MedGen record for Renal hypoplasia">Renal hypoplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/344661" ref="tree=MeSH" title="MedGen record for Renal lymphangiectasia">Renal lymphangiectasia</a></span></li><li><span class="TLline"><a href="/medgen/68662" ref="tree=MeSH" title="MedGen record for Renal malrotation">Renal malrotation</a></span><ul><li><span class="TLline"><a href="/medgen/870840" ref="tree=MeSH" title="MedGen record for Axial malrotation of the kidney">Axial malrotation of the kidney</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1695361" ref="tree=MeSH" title="MedGen record for Renal necrosis">Renal necrosis</a></span><ul><li><span class="TLline"><a href="/medgen/7212" ref="tree=MeSH" title="MedGen record for Kidney papillary necrosis">Kidney papillary necrosis</a></span></li><li><span class="TLline"><a href="/medgen/9634" ref="tree=MeSH" title="MedGen record for Renal cortical necrosis">Renal cortical necrosis</a></span></li><li><span class="TLline"><a href="/medgen/7213" ref="tree=MeSH" title="MedGen record for Renal tubular epithelial necrosis">Renal tubular epithelial necrosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867423" ref="tree=MeSH" title="MedGen record for Renal steatosis">Renal steatosis</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_41345"><div><strong>5p partial monosomy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41345</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)&#10;Click for more information.">C0010314</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/41345">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_61232"><div><strong>Sotos syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61232</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)&#10;Click for more information.">C0175695</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Sotos syndrome is characterized by a distinctive facial appearance (broad and prominent forehead with a dolichocephalic head shape, sparse frontotemporal hair, downslanting palpebral fissures, malar flushing, long and narrow face, long chin); learning disability (early developmental delay, mild-to-severe intellectual impairment); and overgrowth (height and/or head circumference =2 SD above the mean). These three clinical features are considered the cardinal features of Sotos syndrome. Major features of Sotos syndrome include behavioral findings (most notably autistic spectrum disorder), advanced bone age, cardiac anomalies, cranial MRI/CT abnormalities, joint hyperlaxity with or without pes planus, maternal preeclampsia, neonatal complications, renal anomalies, scoliosis, and seizures.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/61232">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_120522"><div><strong>Miller syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120522</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)&#10;Click for more information.">C0265257</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Miller syndrome, also known as postaxial acrofacial dysostosis (POADS), is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by Ng et al., 2010).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120522">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_120532"><div><strong>Baller-Gerold syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120532</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)&#10;Click for more information.">C0265308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120532">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_120564"><div><strong>Supernumerary nipple</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120564</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)&#10;Click for more information.">C0266011</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Presence of more than two nipples.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120564">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_96569"><div><strong>Renal cysts and diabetes syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96569</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0431693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder [ASD], attention-deficit/hyperactivity disorder [ADHD], schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85%-90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/96569">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_332086"><div><strong>Systemic lupus erythematosus, susceptibility to, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332086</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)&#10;Click for more information.">C1835919</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">SLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.\n\nSystemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.\n\nAbout a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.\n\nPeople with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/332086">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_339994"><div><strong>Phelan-McDermid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339994</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)&#10;Click for more information.">C1853490</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Phelan-McDermid syndrome-SHANK3 related (PMS-SHANK3 related) is characterized by neonatal hypotonia, absent to severely delayed speech, developmental delay, and minor dysmorphic facial features. Most affected individuals have moderate-to-profound intellectual disability. Other features include relatively large fleshy hands, dysplastic toenails, and decreased perspiration that results in a tendency to overheat. Normal stature and normal head size distinguish PMS-SHANK3 related from other autosomal chromosome disorders. Neurobehavioral characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder or autistic-like affect and behavior. Some individuals experience regression / loss of skills, epilepsy, ataxic/abnormal gait, and sleep disturbance (difficulty falling asleep and staying asleep, hypersomnia, and parasomnias). Less commonly, affected individuals may have strabismus, vision problems (hyperopia or myopia), cardiac anomalies, renal anomalies, and lymphedema. Those who have PMS-SHANK3 related due to a ring chromosome 22 also have a high risk of developing features of NF2-related schwannomatosis (NF2).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/339994">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341067"><div><strong>Mowat-Wilson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341067</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)&#10;Click for more information.">C1856113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341067">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_395295"><div><strong>Bardet-Biedl syndrome 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395295</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)&#10;Click for more information.">C1859569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Bardet-Biedl syndrome-11 (BBS11) is a pleiotropic autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal abnormalities, learning disabilities, and hypogenitalism (Chiang et al., 2006).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/395295">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_396196"><div><strong>Klippel-Feil syndrome 1, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396196</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)&#10;Click for more information.">C1861689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.\n\nIn people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; fusion of additional vertebrae below the neck may also occur.\n\nPeople with Klippel-Feil syndrome may have a wide variety of other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, eye abnormalities, an opening in the roof of the mouth (cleft palate), genitourinary problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of the hips or knees. Additionally, the shoulder blades may be underdeveloped so that they sit abnormally high on the back, a condition called Sprengel deformity. Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect) can occur in people with Klippel-Feil syndrome.\n\nIn some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/396196">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_350477"><div><strong>Rubinstein-Taybi syndrome due to 16p13.3 microdeletion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350477</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)&#10;Click for more information.">C1864648</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/350477">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_422452"><div><strong>Bardet-Biedl syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>422452</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2936862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014).&#13; Genetic Heterogeneity of Bardet-Biedl Syndrome&#13; BBS2 (615981) is caused by mutation in a gene on 16q13 (606151); BBS3 (600151), by mutation in the ARL6 gene on 3q11 (608845); BBS4 (615982), by mutation in a gene on 15q22 (600374); BBS5 (615983), by mutation in a gene on 2q31 (603650); BBS6 (605231), by mutation in the MKKS gene on 20p12 (604896); BBS7 (615984), by mutation in a gene on 4q27 (607590); BBS8 (615985), by mutation in the TTC8 gene on 14q32 (608132); BBS9 (615986), by mutation in a gene on 7p14 (607968); BBS10 (615987), by mutation in a gene on 12q21 (610148); BBS11 (615988), by mutation in the TRIM32 gene on 9q33 (602290); BBS12 (615989), by mutation in a gene on 4q27 (610683); BBS13 (615990), by mutation in the MKS1 gene (609883) on 17q23; BBS14 (615991), by mutation in the CEP290 gene (610142) on 12q21, BBS15 (615992), by mutation in the WDPCP gene (613580) on 2p15; BBS16 (615993), by mutation in the SDCCAG8 gene (613524) on 1q43; BBS17 (615994), by mutation in the LZTFL1 gene (606568) on 3p21; BBS18 (615995), by mutation in the BBIP1 gene (613605) on 10q25; BBS19 (615996), by mutation in the IFT27 gene (615870) on 22q12; BBS20 (619471), by mutation in the IFT172 gene (607386) on 9p21; BBS21 (617406), by mutation in the CFAP418 gene (614477) on 8q22; and BBS22 (617119), by mutation in the IFT74 gene (608040) on 9p21.&#13; The CCDC28B gene (610162) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67; 609884), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.&#13; Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene (608845.0002) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene (209901.0001).&#13; Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (613464), caused by TTC8 mutation, and RP55 (613575), caused by ARL6 mutation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/422452">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_423627"><div><strong>Bardet-Biedl syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>423627</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)&#10;Click for more information.">C2936864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/423627">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462065"><div><strong>Retinitis pigmentosa 51</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462065</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)&#10;Click for more information.">C3150715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462065">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1704278"><div><strong>Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1704278</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)&#10;Click for more information.">C5200934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MYH9-related disease (MYH9-RD) is characterized in all affected individuals by hematologic features present from birth consisting of platelet macrocytosis (i.e., &gt;40% of platelets larger than 3.9 µm in diameter), thrombocytopenia (platelet count &lt;150 x 109/L), and aggregates of the MYH9 protein in the cytoplasm of neutrophil granulocytes. Most affected individuals develop one or more additional extrahematologic manifestations of the disease over their lifetime, including sensorineural hearing loss, renal disease (manifesting initially as glomerular nephropathy), presenile cataracts, and/or elevation of liver enzymes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1704278">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_41345" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">5p partial monosomy syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Baller-Gerold syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_422452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 11</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_423627" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 4</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_396196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Klippel-Feil syndrome 1, autosomal dominant</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1704278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120522" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Miller syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mowat-Wilson syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339994" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phelan-McDermid syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96569" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cysts and diabetes syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462065" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 51</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350477" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rubinstein-Taybi syndrome due to 16p13.3 microdeletion</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sotos syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120564" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Supernumerary nipple</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Systemic lupus erythematosus, susceptibility to, 6</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/35334515">Acute Kidney Injury: Biomarker-Guided Diagnosis and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yoon SY,
Kim JS,
Jeong KH,
Kim SK</span><br />
<span class="medgenPMjournal">Medicina (Kaunas)</span>
2022 Feb 23;58(3)
doi: 10.3390/medicina58030340.
<span class="bold">PMID: </span><a href="/pubmed/35334515" target="_blank">35334515</a><a href="/pmc/articles/PMC8953384" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32621135">Swiss consensus recommendations on urinary tract infections in children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Buettcher M,
Trueck J,
Niederer-Loher A,
Heininger U,
Agyeman P,
Asner S,
Berger C,
Bielicki J,
Kahlert C,
Kottanattu L,
Meyer Sauteur PM,
Paioni P,
Posfay-Barbe K,
Relly C,
Ritz N,
Zimmermann P,
Zucol F,
Gobet R,
Shavit S,
Rudin C,
Laube G,
von Vigier R,
Neuhaus TJ</span><br />
<span class="medgenPMjournal">Eur J Pediatr</span>
2021 Mar;180(3):663-674.
Epub 2020 Jul 3
doi: 10.1007/s00431-020-03714-4.
<span class="bold">PMID: </span><a href="/pubmed/32621135" target="_blank">32621135</a><a href="/pmc/articles/PMC7886823" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30228150">A Practical Guide for Treatment of Rapidly Progressive ADPKD with Tolvaptan.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chebib FT,
Perrone RD,
Chapman AB,
Dahl NK,
Harris PC,
Mrug M,
Mustafa RA,
Rastogi A,
Watnick T,
Yu ASL,
Torres VE</span><br />
<span class="medgenPMjournal">J Am Soc Nephrol</span>
2018 Oct;29(10):2458-2470.
Epub 2018 Sep 18
doi: 10.1681/ASN.2018060590.
<span class="bold">PMID: </span><a href="/pubmed/30228150" target="_blank">30228150</a><a href="/pmc/articles/PMC6171265" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20kidney)%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 (157)</a></div></div>
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<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
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<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/38097330">Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yang H,
Sieben CJ,
Schauer RS,
Harris PC</span><br />
<span class="medgenPMjournal">Adv Kidney Dis Health</span>
2023 Sep;30(5):397-406.
doi: 10.1053/j.akdh.2023.04.004.
<span class="bold">PMID: </span><a href="/pubmed/38097330" target="_blank">38097330</a><a href="/pmc/articles/PMC10746289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37524861">The genetics and pathogenesis of CAKUT.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kolvenbach CM,
Shril S,
Hildebrandt F</span><br />
<span class="medgenPMjournal">Nat Rev Nephrol</span>
2023 Nov;19(11):709-720.
Epub 2023 Jul 31
doi: 10.1038/s41581-023-00742-9.
<span class="bold">PMID: </span><a href="/pubmed/37524861" target="_blank">37524861</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33532864">Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Domingo-Gallego A,
Pybus M,
Bullich G,
Furlano M,
Ejarque-Vila L,
Lorente-Grandoso L,
Ruiz P,
Fraga G,
López González M,
Piñero-Fernández JA,
Rodríguez-Peña L,
Llano-Rivas I,
Sáez R,
Bujons-Tur A,
Ariceta G,
Guirado L,
Torra R,
Ars E</span><br />
<span class="medgenPMjournal">Nephrol Dial Transplant</span>
2022 Mar 25;37(4):687-696.
doi: 10.1093/ndt/gfab019.
<span class="bold">PMID: </span><a href="/pubmed/33532864" target="_blank">33532864</a></div>
<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/32188635">A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Murugapoopathy V,
Gupta IR</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2020 May 7;15(5):723-731.
Epub 2020 Mar 18
doi: 10.2215/CJN.12581019.
<span class="bold">PMID: </span><a href="/pubmed/32188635" target="_blank">32188635</a><a href="/pmc/articles/PMC7269211" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20kidney%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 (1383)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39004457">Alport Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chavez E,
Goncalves S,
Rheault MN,
Fornoni A</span><br />
<span class="medgenPMjournal">Adv Kidney Dis Health</span>
2024 May;31(3):170-179.
doi: 10.1053/j.akdh.2024.02.004.
<span class="bold">PMID: </span><a href="/pubmed/39004457" target="_blank">39004457</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37524861">The genetics and pathogenesis of CAKUT.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kolvenbach CM,
Shril S,
Hildebrandt F</span><br />
<span class="medgenPMjournal">Nat Rev Nephrol</span>
2023 Nov;19(11):709-720.
Epub 2023 Jul 31
doi: 10.1038/s41581-023-00742-9.
<span class="bold">PMID: </span><a href="/pubmed/37524861" target="_blank">37524861</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32188635">A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Murugapoopathy V,
Gupta IR</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2020 May 7;15(5):723-731.
Epub 2020 Mar 18
doi: 10.2215/CJN.12581019.
<span class="bold">PMID: </span><a href="/pubmed/32188635" target="_blank">32188635</a><a href="/pmc/articles/PMC7269211" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31811536">Management of antenatal hydronephrosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yalçınkaya F,
Özçakar ZB</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2020 Dec;35(12):2231-2239.
Epub 2019 Dec 6
doi: 10.1007/s00467-019-04420-6.
<span class="bold">PMID: </span><a href="/pubmed/31811536" target="_blank">31811536</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18947299">Polycystic kidney disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Harris PC,
Torres VE</span><br />
<span class="medgenPMjournal">Annu Rev Med</span>
2009;60:321-37.
doi: 10.1146/annurev.med.60.101707.125712.
<span class="bold">PMID: </span><a href="/pubmed/18947299" target="_blank">18947299</a><a href="/pmc/articles/PMC2834200" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20kidney%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 (1629)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/30228150">A Practical Guide for Treatment of Rapidly Progressive ADPKD with Tolvaptan.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chebib FT,
Perrone RD,
Chapman AB,
Dahl NK,
Harris PC,
Mrug M,
Mustafa RA,
Rastogi A,
Watnick T,
Yu ASL,
Torres VE</span><br />
<span class="medgenPMjournal">J Am Soc Nephrol</span>
2018 Oct;29(10):2458-2470.
Epub 2018 Sep 18
doi: 10.1681/ASN.2018060590.
<span class="bold">PMID: </span><a href="/pubmed/30228150" target="_blank">30228150</a><a href="/pmc/articles/PMC6171265" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28640449">Polycystic Kidney Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ghata J,
Cowley BD Jr</span><br />
<span class="medgenPMjournal">Compr Physiol</span>
2017 Jun 18;7(3):945-975.
doi: 10.1002/cphy.c160018.
<span class="bold">PMID: </span><a href="/pubmed/28640449" target="_blank">28640449</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24904092">Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Irazabal MV,
Rangel LJ,
Bergstralh EJ,
Osborn SL,
Harmon AJ,
Sundsbak JL,
Bae KT,
Chapman AB,
Grantham JJ,
Mrug M,
Hogan MC,
El-Zoghby ZM,
Harris PC,
Erickson BJ,
King BF,
Torres VE;
CRISP Investigators</span><br />
<span class="medgenPMjournal">J Am Soc Nephrol</span>
2015 Jan;26(1):160-72.
Epub 2014 Jun 5
doi: 10.1681/ASN.2013101138.
<span class="bold">PMID: </span><a href="/pubmed/24904092" target="_blank">24904092</a><a href="/pmc/articles/PMC4279733" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23824181">Uric acid and the kidney.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fathallah-Shaykh SA,
Cramer MT</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2014 Jun;29(6):999-1008.
Epub 2013 Jul 4
doi: 10.1007/s00467-013-2549-x.
<span class="bold">PMID: </span><a href="/pubmed/23824181" target="_blank">23824181</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6756144">Complications of percutaneous needle biopsy of the kidney.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wickre CG,
Golper TA</span><br />
<span class="medgenPMjournal">Am J Nephrol</span>
1982;2(4):173-8.
doi: 10.1159/000166640.
<span class="bold">PMID: </span><a href="/pubmed/6756144" target="_blank">6756144</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20kidney%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 (734)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39004457">Alport Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chavez E,
Goncalves S,
Rheault MN,
Fornoni A</span><br />
<span class="medgenPMjournal">Adv Kidney Dis Health</span>
2024 May;31(3):170-179.
doi: 10.1053/j.akdh.2024.02.004.
<span class="bold">PMID: </span><a href="/pubmed/39004457" target="_blank">39004457</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37524861">The genetics and pathogenesis of CAKUT.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kolvenbach CM,
Shril S,
Hildebrandt F</span><br />
<span class="medgenPMjournal">Nat Rev Nephrol</span>
2023 Nov;19(11):709-720.
Epub 2023 Jul 31
doi: 10.1038/s41581-023-00742-9.
<span class="bold">PMID: </span><a href="/pubmed/37524861" target="_blank">37524861</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35713730">Management of the congenital solitary kidney: consensus recommendations of the Italian Society of Pediatric Nephrology.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">La Scola C,
Ammenti A,
Bertulli C,
Bodria M,
Brugnara M,
Camilla R,
Capone V,
Casadio L,
Chimenz R,
Conte ML,
Conversano E,
Corrado C,
Guarino S,
Luongo I,
Marsciani M,
Marzuillo P,
Meneghesso D,
Pennesi M,
Pugliese F,
Pusceddu S,
Ravaioli E,
Taroni F,
Vergine G,
Peruzzi L,
Montini G</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2022 Sep;37(9):2185-2207.
Epub 2022 Jun 17
doi: 10.1007/s00467-022-05528-y.
<span class="bold">PMID: </span><a href="/pubmed/35713730" target="_blank">35713730</a><a href="/pmc/articles/PMC9307550" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32188635">A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Murugapoopathy V,
Gupta IR</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2020 May 7;15(5):723-731.
Epub 2020 Mar 18
doi: 10.2215/CJN.12581019.
<span class="bold">PMID: </span><a href="/pubmed/32188635" target="_blank">32188635</a><a href="/pmc/articles/PMC7269211" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24904092">Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Irazabal MV,
Rangel LJ,
Bergstralh EJ,
Osborn SL,
Harmon AJ,
Sundsbak JL,
Bae KT,
Chapman AB,
Grantham JJ,
Mrug M,
Hogan MC,
El-Zoghby ZM,
Harris PC,
Erickson BJ,
King BF,
Torres VE;
CRISP Investigators</span><br />
<span class="medgenPMjournal">J Am Soc Nephrol</span>
2015 Jan;26(1):160-72.
Epub 2014 Jun 5
doi: 10.1681/ASN.2013101138.
<span class="bold">PMID: </span><a href="/pubmed/24904092" target="_blank">24904092</a><a href="/pmc/articles/PMC4279733" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20kidney%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 (839)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/35575937">The term CAKUT has outlived its usefulness: the case for the prosecution.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Woolf AS</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2022 Nov;37(11):2785-2791.
Epub 2022 May 16
doi: 10.1007/s00467-022-05576-4.
<span class="bold">PMID: </span><a href="/pubmed/35575937" target="_blank">35575937</a><a href="/pmc/articles/PMC9489548" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26160100">HNF1B-associated clinical phenotypes: the kidney and beyond.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bockenhauer D,
Jaureguiberry G</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2016 May;31(5):707-14.
Epub 2015 Jul 8
doi: 10.1007/s00467-015-3142-2.
<span class="bold">PMID: </span><a href="/pubmed/26160100" target="_blank">26160100</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24904092">Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Irazabal MV,
Rangel LJ,
Bergstralh EJ,
Osborn SL,
Harmon AJ,
Sundsbak JL,
Bae KT,
Chapman AB,
Grantham JJ,
Mrug M,
Hogan MC,
El-Zoghby ZM,
Harris PC,
Erickson BJ,
King BF,
Torres VE;
CRISP Investigators</span><br />
<span class="medgenPMjournal">J Am Soc Nephrol</span>
2015 Jan;26(1):160-72.
Epub 2014 Jun 5
doi: 10.1681/ASN.2013101138.
<span class="bold">PMID: </span><a href="/pubmed/24904092" target="_blank">24904092</a><a href="/pmc/articles/PMC4279733" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18065301">Dysplastic kidneys.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Winyard P,
Chitty LS</span><br />
<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
2008 Jun;13(3):142-51.
Epub 2007 Dec 11
doi: 10.1016/j.siny.2007.10.009.
<span class="bold">PMID: </span><a href="/pubmed/18065301" target="_blank">18065301</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10505492">Obesity and hypertension.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mikhail N,
Golub MS,
Tuck ML</span><br />
<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
1999 Jul-Aug;42(1):39-58.
doi: 10.1016/s0033-0620(99)70008-3.
<span class="bold">PMID: </span><a href="/pubmed/10505492" target="_blank">10505492</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20kidney%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 (986)</a></div></div>
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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="nl"><a target="_blank" href="/pubmed/38512106">Risk of kidney and liver diseases after COVID-19 infection: A systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pan B,
Wang X,
Lai H,
Vernooij RWM,
Deng X,
Ma N,
Li D,
Huang J,
Zhao W,
Ning J,
Liu J,
Tian J,
Ge L,
Yang K</span><br />
<span class="medgenPMjournal">Rev Med Virol</span>
2024 Mar;34(2):e2523.
doi: 10.1002/rmv.2523.
<span class="bold">PMID: </span><a href="/pubmed/38512106" target="_blank">38512106</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38230874">Natural history of Wolcott-Rallison syndrome: A systematic review and follow-up study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aldrian D,
Bochdansky C,
Kavallar AM,
Mayerhofer C,
Deeb A,
Habeb A,
Romera Rabasa A,
Khadilkar A,
Uçar A,
Knoppke B,
Zafeiriou D,
Lang-Muritano M,
Miqdady M,
Judmaier S,
McLin V,
Furdela V,
Müller T,
Vogel GF</span><br />
<span class="medgenPMjournal">Liver Int</span>
2024 Mar;44(3):811-822.
Epub 2024 Jan 17
doi: 10.1111/liv.15834.
<span class="bold">PMID: </span><a href="/pubmed/38230874" target="_blank">38230874</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38097032">A systematic review of metabolomic findings in adult and pediatric renal disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moritz L,
Schumann A,
Pohl M,
Köttgen A,
Hannibal L,
Spiekerkoetter U</span><br />
<span class="medgenPMjournal">Clin Biochem</span>
2024 Jan;123:110703.
Epub 2023 Dec 12
doi: 10.1016/j.clinbiochem.2023.110703.
<span class="bold">PMID: </span><a href="/pubmed/38097032" target="_blank">38097032</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36374833">Association of kidney function and brain health: A systematic review and meta-analysis of cohort studies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tang X,
Han YP,
Chai YH,
Gong HJ,
Xu H,
Patel I,
Qiao YS,
Zhang JY,
Cardoso MA,
Zhou JB</span><br />
<span class="medgenPMjournal">Ageing Res Rev</span>
2022 Dec;82:101762.
Epub 2022 Oct 29
doi: 10.1016/j.arr.2022.101762.
<span class="bold">PMID: </span><a href="/pubmed/36374833" target="_blank">36374833</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35965104">Endocrine manifestations of chronic kidney disease and their evolving management: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kaka N,
Sethi Y,
Patel N,
Kaiwan O,
Al-Inaya Y,
Manchanda K,
Uniyal N</span><br />
<span class="medgenPMjournal">Dis Mon</span>
2022 Dec;68(12):101466.
Epub 2022 Aug 12
doi: 10.1016/j.disamonth.2022.101466.
<span class="bold">PMID: </span><a href="/pubmed/35965104" target="_blank">35965104</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20kidney%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 (22)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0266292%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
<li><a href="/gtr/tests?term=C0266292%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0266292%5bDISCUI%5d" target="_blank">See all (5)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormality%20of%20the%20kidney" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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