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<meta name="keywords" content="C3890591, cep83, cep83 nephronophthisis (disease), disease or syndrome, nephronophthisis (disease) caused by mutation in cep83, nephronophthisis 18, nephronophthisis type 18, nphp18, 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="Nephronophthisis-18 is an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients (summary by Failler et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (256100)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=855697
|
||
ConceptID=C3890591
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Nephronophthisis 18<span class="h1sub">(NPHP18)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>855697</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:">C3890591</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>NPHP18</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="CEP83 - ID: 51134 - NCBI Gene" href="/gene/51134" class="medgenPMinfo">CEP83</a> (12q22)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014374" target="_blank">MONDO:0014374</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615862" target="_blank">615862</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Nephronophthisis-18 is an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients (summary by Failler et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (256100). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_117">
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<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 />Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.<br /><br />Nephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent).<br /><br />About 85 percent of all cases of nephronophthisis are isolated, which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus).<br /><br />Nephronophthisis can occur as part of separate syndromes that affect other areas of the body; these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of nephronophthisis and a breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis. <a target="_blank" href="https://medlineplus.gov/genetics/condition/nephronophthisis">https://medlineplus.gov/genetics/condition/nephronophthisis</a></div></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
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||
<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_11952"><div><strong>Interstitial nephritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11952</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.">C0041349</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11952">Feature record</a> | <a href="/medgen?term=%22Interstitial%20nephritis%22%5BClinical%20Features%5D%20OR%2011952%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488906"><div><strong>Thickened glomerular basement membrane</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488906</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.">C0445347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488906">Feature record</a> | <a href="/medgen?term=%22Thickened%20glomerular%20basement%20membrane%22%5BClinical%20Features%5D%20OR%20488906%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_146912"><div><strong>Nephronophthisis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>146912</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.">C0687120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/146912">Feature record</a> | <a href="/medgen?term=%22Nephronophthisis%22%5BClinical%20Features%5D%20OR%20146912%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_388054"><div><strong>Renal tubular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388054</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.">C1858395</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388054">Feature record</a> | <a href="/medgen?term=%22Renal%20tubular%20atrophy%22%5BClinical%20Features%5D%20OR%20388054%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_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_925"><div><strong>Cholestasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>925</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.">C0008370</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impairment of bile flow due to obstruction in bile ducts.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/925">Feature record</a> | <a href="/medgen?term=%22Cholestasis%22%5BClinical%20Features%5D%20OR%20925%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_893107"><div><strong>Portal fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>893107</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.">C3805083</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fibroblast proliferation and fiber expansion from the portal areas to the lobule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/893107">Feature record</a> | <a href="/medgen?term=%22Portal%20fibrosis%22%5BClinical%20Features%5D%20OR%20893107%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9335"><div><strong>Hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9335</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.">C0020255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9335">Feature record</a> | <a href="/medgen?term=%22Hydrocephalus%22%5BClinical%20Features%5D%20OR%209335%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19765"><div><strong>Retinitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19765</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.">C0035333</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of the retina of the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19765">Feature record</a> | <a href="/medgen?term=%22Retinitis%22%5BClinical%20Features%5D%20OR%2019765%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</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.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%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 the cardiovascular system</span><ul><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></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_925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_893107" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Portal fibrosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19765" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</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_11952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Interstitial nephritis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_146912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephronophthisis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_388054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal tubular atrophy</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488906" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thickened glomerular basement membrane</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrocephalus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li></ul></li></ul></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/35482924">Agonists of prostaglandin E(2) receptors as potential first in class treatment for nephronophthisis and related ciliopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garcia H,
|
||
Serafin AS,
|
||
Silbermann F,
|
||
Porée E,
|
||
Viau A,
|
||
Mahaut C,
|
||
Billot K,
|
||
Birgy É,
|
||
Garfa-Traore M,
|
||
Roy S,
|
||
Ceccarelli S,
|
||
Mehraz M,
|
||
Rodriguez PC,
|
||
Deleglise B,
|
||
Furio L,
|
||
Jabot-Hanin F,
|
||
Cagnard N,
|
||
Del Nery E,
|
||
Fila M,
|
||
Sin-Monnot S,
|
||
Antignac C,
|
||
Lyonnet S,
|
||
Krug P,
|
||
Salomon R,
|
||
Annereau JP,
|
||
Benmerah A,
|
||
Delous M,
|
||
Briseño-Roa L,
|
||
Saunier S</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
2022 May 3;119(18):e2115960119.
|
||
Epub 2022 Apr 28
|
||
doi: 10.1073/pnas.2115960119.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35482924" target="_blank">35482924</a><a href="/pmc/articles/PMC9170064" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33323469">Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang X,
|
||
Liu C,
|
||
Liu X,
|
||
Chen J,
|
||
Fan X,
|
||
Liu J,
|
||
Ma D,
|
||
Cao G,
|
||
Chen Z,
|
||
Xu D,
|
||
Zhu Y,
|
||
Jiang X,
|
||
Cheng L,
|
||
Wu Y,
|
||
Hou L,
|
||
Li Y,
|
||
Shao X,
|
||
Zheng S,
|
||
Zhang A,
|
||
Zheng B,
|
||
Jian S,
|
||
Rong Z,
|
||
Su Q,
|
||
Gao X,
|
||
Rao J,
|
||
Shen Q,
|
||
Xu H;
|
||
Chinese Children Genetic Kidney Disease Database (CCGKDD);
|
||
“Internet Plus” Nephrology Alliance of the National Center for Children’s Care</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Feb;59(2):147-154.
|
||
Epub 2020 Dec 15
|
||
doi: 10.1136/jmedgenet-2020-107184.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33323469" target="_blank">33323469</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(nephronophthisis%2018)%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/37230223">The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petzold F,
|
||
Billot K,
|
||
Chen X,
|
||
Henry C,
|
||
Filhol E,
|
||
Martin Y,
|
||
Avramescu M,
|
||
Douillet M,
|
||
Morinière V,
|
||
Krug P,
|
||
Jeanpierre C,
|
||
Tory K,
|
||
Boyer O,
|
||
Burgun A,
|
||
Servais A,
|
||
Salomon R,
|
||
Benmerah A,
|
||
Heidet L,
|
||
Garcelon N,
|
||
Antignac C,
|
||
Zaidan M,
|
||
Saunier S;
|
||
INSERM–Necker Hospital NPH collaborative group</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2023 Aug;104(2):378-387.
|
||
Epub 2023 May 23
|
||
doi: 10.1016/j.kint.2023.05.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37230223" target="_blank">37230223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33323469">Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang X,
|
||
Liu C,
|
||
Liu X,
|
||
Chen J,
|
||
Fan X,
|
||
Liu J,
|
||
Ma D,
|
||
Cao G,
|
||
Chen Z,
|
||
Xu D,
|
||
Zhu Y,
|
||
Jiang X,
|
||
Cheng L,
|
||
Wu Y,
|
||
Hou L,
|
||
Li Y,
|
||
Shao X,
|
||
Zheng S,
|
||
Zhang A,
|
||
Zheng B,
|
||
Jian S,
|
||
Rong Z,
|
||
Su Q,
|
||
Gao X,
|
||
Rao J,
|
||
Shen Q,
|
||
Xu H;
|
||
Chinese Children Genetic Kidney Disease Database (CCGKDD);
|
||
“Internet Plus” Nephrology Alliance of the National Center for Children’s Care</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Feb;59(2):147-154.
|
||
Epub 2020 Dec 15
|
||
doi: 10.1136/jmedgenet-2020-107184.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33323469" target="_blank">33323469</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26673778">Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schueler M,
|
||
Halbritter J,
|
||
Phelps IG,
|
||
Braun DA,
|
||
Otto EA,
|
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Rong Z,
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Su Q,
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Gao X,
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Rao J,
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Shen Q,
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Xu H;
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“Internet Plus” Nephrology Alliance of the National Center for Children’s Care</span><br />
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<div class="portlet_content ln"><span class="medgenPMauthor">Snoek R,
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van Setten J,
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Israni AK,
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Oetting WS,
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Matas AJ,
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Mannon RB,
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Zhang W,
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Hao K,
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Murphy B,
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Reindl-Schwaighofer R,
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Heinzl A,
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Oberbauer R,
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Viklicky O,
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Conlon PJ,
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Stapleton CP,
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Bakker SJL,
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Snieder H,
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Peters EDJ,
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<div class="nl"><a target="_blank" href="/pubmed/25074681">Kidney and liver transplantation in children with fibrocystic liver-kidney disease: data from the US Scientific Registry of Transplant Recipients: 1990-2010.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wen JW,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephronophthisis%2018%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 (21)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/18434616">Role of vasopressin antagonists.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Torres VE</span><br />
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Fuiano L,
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Micalizzi A,
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<div class="nl"><a target="_blank" href="/pubmed/29654215">NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Snoek R,
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van Setten J,
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Keating BJ,
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Israni AK,
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Jacobson PA,
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Oetting WS,
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Matas AJ,
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Mannon RB,
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Zhang Z,
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Zhang W,
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Hao K,
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Murphy B,
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Reindl-Schwaighofer R,
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Heinzl A,
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Oberbauer R,
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Viklicky O,
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Conlon PJ,
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Stapleton CP,
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Bakker SJL,
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Snieder H,
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Peters EDJ,
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van der Zwaag B,
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Knoers NVAM,
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de Borst MH,
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van Eerde AM</span><br />
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<span class="medgenPMjournal">J Am Soc Nephrol</span>
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2018 Jun;29(6):1772-1779.
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<span class="bold">PMID: </span><a href="/pubmed/29654215" target="_blank">29654215</a><a href="/pmc/articles/PMC6054334" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26341656">Combined liver and kidney transplantation and kidney after liver transplantation in children: Indication, postoperative outcome, and long-term results.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Büscher R,
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Büscher AK,
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Cetiner M,
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Treckmann JW,
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Paul A,
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Vester U,
|
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Hoyer PF</span><br />
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<span class="medgenPMjournal">Pediatr Transplant</span>
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2015 Dec;19(8):858-65.
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Epub 2015 Sep 5
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doi: 10.1111/petr.12595.
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<span class="bold">PMID: </span><a href="/pubmed/26341656" target="_blank">26341656</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tong H,
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Yue Z,
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Sun L,
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Chen H,
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Lacoste T,
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Burglen L,
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Morinière V,
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Boddaert N,
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Macher MA,
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Llanas B,
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Nivet H,
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Bensman A,
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Niaudet P,
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<span class="bold">PMID: </span><a href="/pubmed/17409309" target="_blank">17409309</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephronophthisis%2018%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 (9)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37131188">The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35482924">Agonists of prostaglandin E(2) receptors as potential first in class treatment for nephronophthisis and related ciliopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Garcia H,
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<div class="nl"><a target="_blank" href="/pubmed/33323469">Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tang X,
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Liu C,
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Liu X,
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Chen J,
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Fan X,
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Liu J,
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Ma D,
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Cao G,
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Chen Z,
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Xu D,
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Zhu Y,
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Jiang X,
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Cheng L,
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Wu Y,
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Hou L,
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Li Y,
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Shao X,
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Zheng S,
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Zhang A,
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Zheng B,
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Jian S,
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Rong Z,
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Su Q,
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Gao X,
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Rao J,
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Shen Q,
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Xu H;
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Chinese Children Genetic Kidney Disease Database (CCGKDD);
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“Internet Plus” Nephrology Alliance of the National Center for Children’s Care</span><br />
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<span class="medgenPMjournal">J Med Genet</span>
|
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2022 Feb;59(2):147-154.
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Epub 2020 Dec 15
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doi: 10.1136/jmedgenet-2020-107184.
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<span class="bold">PMID: </span><a href="/pubmed/33323469" target="_blank">33323469</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/26184788">High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun L,
|
||
Tong H,
|
||
Wang H,
|
||
Yue Z,
|
||
Liu T,
|
||
Lin H,
|
||
Li J,
|
||
Wang C</span><br />
|
||
<span class="medgenPMjournal">Nephrology (Carlton)</span>
|
||
2016 Mar;21(3):209-16.
|
||
doi: 10.1111/nep.12563.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26184788" target="_blank">26184788</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26641089">Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan B,
|
||
Liu P,
|
||
Gupta A,
|
||
Beck CR,
|
||
Tejomurtula A,
|
||
Campbell IM,
|
||
Gambin T,
|
||
Simmons AD,
|
||
Withers MA,
|
||
Harris RA,
|
||
Rogers J,
|
||
Schwartz DC,
|
||
Lupski JR</span><br />
|
||
<span class="medgenPMjournal">PLoS Genet</span>
|
||
2015 Dec;11(12):e1005686.
|
||
Epub 2015 Dec 7
|
||
doi: 10.1371/journal.pgen.1005686.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26641089" target="_blank">26641089</a><a href="/pmc/articles/PMC4671654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephronophthisis%2018%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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<div class=" bottom">
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|
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|
||
|
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3890591%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C3890591%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C3890591%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3890591%5bDISCUI%5d" target="_blank">See all (22)</a></total></li>
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