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<meta name="keywords" content="C1858392, adolescent nephronophthisis, disease or syndrome, nephronophthisis (disease) caused by mutation in nphp3, nephronophthisis 3, nephronophthisis type 3, nephronophthisis, adolescent, nph3, nphp3, nphp3 nephronophthisis (disease), autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="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.\n\nAbout 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).\n\nNephronophthisis 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).\n\nNephronophthisis 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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=346809
|
||
ConceptID=C1858392
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Nephronophthisis 3<span class="h1sub">(NPHP3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346809</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:">C1858392</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Adolescent nephronophthisis; NPHP3</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Adolescent nephronophthisis (444749006)</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="NPHP3 - ID: 27031 - NCBI Gene" href="/gene/27031" class="medgenPMinfo">NPHP3</a> (3q22.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011456" target="_blank">MONDO:0011456</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/604387" target="_blank">604387</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 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.<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 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 />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. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
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||
|
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<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_8649"><div><strong>Enuresis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8649</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.">C0014394</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8649">Feature record</a> | <a href="/medgen?term=%22Enuresis%22%5BClinical%20Features%5D%20OR%208649%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5488"><div><strong>Hematuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5488</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.">C0018965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5488">Feature record</a> | <a href="/medgen?term=%22Hematuria%22%5BClinical%20Features%5D%20OR%205488%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19404"><div><strong>Polyuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19404</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.">C0032617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased rate of urine production.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19404">Feature record</a> | <a href="/medgen?term=%22Polyuria%22%5BClinical%20Features%5D%20OR%2019404%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10976"><div><strong>Proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10976</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.">C0033687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased levels of protein in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10976">Feature record</a> | <a href="/medgen?term=%22Proteinuria%22%5BClinical%20Features%5D%20OR%2010976%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108156"><div><strong>Enlarged kidney</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108156</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.">C0542518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increase in the size of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108156">Feature record</a> | <a href="/medgen?term=%22Enlarged%20kidney%22%5BClinical%20Features%5D%20OR%20108156%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>
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<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>
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<div class="divPopper rprt" id="clin_332529"><div><strong>Renal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332529</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1565489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332529">Feature record</a> | <a href="/medgen?term=%22Renal%20insufficiency%22%5BClinical%20Features%5D%20OR%20332529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_409631"><div><strong>Renal corticomedullary cysts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409631</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.">C1968619</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of multiple cysts at the border between the renal cortex and medulla.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/409631">Feature record</a> | <a href="/medgen?term=%22Renal%20corticomedullary%20cysts%22%5BClinical%20Features%5D%20OR%20409631%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_370652"><div><strong>Tubulointerstitial fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370652</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.">C1969372</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370652">Feature record</a> | <a href="/medgen?term=%22Tubulointerstitial%20fibrosis%22%5BClinical%20Features%5D%20OR%20370652%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_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116093"><div><strong>Hepatic fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116093</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.">C0239946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116093">Feature record</a> | <a href="/medgen?term=%22Hepatic%20fibrosis%22%5BClinical%20Features%5D%20OR%20116093%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43214"><div><strong>Polydipsia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43214</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.">C0085602</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excessive thirst manifested by excessive fluid intake.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43214">Feature record</a> | <a href="/medgen?term=%22Polydipsia%22%5BClinical%20Features%5D%20OR%2043214%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 digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic fibrosis</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_108156" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enlarged kidney</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8649" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enuresis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5488" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hematuria</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_19404" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteinuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_409631" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal corticomedullary cysts</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal insufficiency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_370652" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tubulointerstitial fibrosis</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_43214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polydipsia</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0687120[DISCUI]&test_type=Clinical" ref="ncbi_uid=146912">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0687120[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=146912">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK368475/" ref="ncbi_uid=146912">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=146912" ref="ncbi_uid=146912">V</a></span></span><span class="TLline"><a href="/medgen/146912" ref="tree=GTR&ncbi_uid=146912&link_uid=146912" title="View MedGen record for 'Nephronophthisis'">Nephronophthisis</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865872[DISCUI]&test_type=Clinical" ref="ncbi_uid=355574">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355574" target="_blank" href="/omim/243305">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK368475/" ref="ncbi_uid=355574">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=355574" ref="ncbi_uid=355574">V</a></span></span><span class="TLline"><a href="/medgen/355574" ref="tree=GTR&ncbi_uid=355574&link_uid=355574" title="View MedGen record for 'Infantile nephronophthisis'">Infantile nephronophthisis</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855681[DISCUI]&test_type=Clinical" ref="ncbi_uid=343406">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343406" target="_blank" href="/omim/256100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK368475/" ref="ncbi_uid=343406">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343406" ref="ncbi_uid=343406">V</a></span></span><span class="TLline"><a href="/medgen/343406" ref="tree=GTR&ncbi_uid=343406&link_uid=343406" title="View MedGen record for 'Nephronophthisis 1'">Nephronophthisis 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858392[DISCUI]&test_type=Clinical" ref="ncbi_uid=346809">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346809" target="_blank" href="/omim/604387">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK368475/" ref="ncbi_uid=346809">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346809" ref="ncbi_uid=346809">V</a></span></span><span class="TLline">Nephronophthisis 3</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847013[DISCUI]&test_type=Clinical" ref="ncbi_uid=339667">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339667" target="_blank" href="/omim/606966">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK368475/" ref="ncbi_uid=339667">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339667" ref="ncbi_uid=339667">V</a></span></span><span class="TLline"><a href="/medgen/339667" ref="tree=GTR&ncbi_uid=339667&link_uid=339667" title="View MedGen record for 'Nephronophthisis 4'">Nephronophthisis 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969092[DISCUI]&test_type=Clinical" ref="ncbi_uid=369409">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=369409" target="_blank" href="/omim/608539">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK368475/" ref="ncbi_uid=369409">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=369409" ref="ncbi_uid=369409">V</a></span></span><span class="TLline"><a href="/medgen/369409" ref="tree=GTR&ncbi_uid=369409&link_uid=369409" title="View MedGen record for 'Nephronophthisis 7'">Nephronophthisis 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN119610[DISCUI]&test_type=Clinical" ref="ncbi_uid=468521">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&from_uid=468521" ref="ncbi_uid=468521">V</a></span></span><span class="TLline"><a href="/medgen/468521" ref="tree=GTR&ncbi_uid=468521&link_uid=468521" title="View MedGen record for 'Nephronophthisis 8'">Nephronophthisis 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151188[DISCUI]&test_type=Clinical" ref="ncbi_uid=462538">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462538" target="_blank" href="/omim/609799">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK368475/" ref="ncbi_uid=462538">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462538" ref="ncbi_uid=462538">V</a></span></span><span class="TLline"><a href="/medgen/462538" ref="tree=GTR&ncbi_uid=462538&link_uid=462538" title="View MedGen record for 'Nephronophthisis 9'">Nephronophthisis 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150796[DISCUI]&test_type=Clinical" ref="ncbi_uid=462146">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462146" target="_blank" href="/omim/609884">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK368475/" ref="ncbi_uid=462146">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462146" ref="ncbi_uid=462146">V</a></span></span><span class="TLline"><a href="/medgen/462146" ref="tree=GTR&ncbi_uid=462146&link_uid=462146" title="View MedGen record for 'Nephronophthisis 11'">Nephronophthisis 11</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/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="TLline"><a href="/medgen/78593" ref="tree=MeSH" title="MedGen record for Abnormality of the kidney">Abnormality of the kidney</a></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/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/146912" ref="tree=MeSH" title="MedGen record for Nephronophthisis">Nephronophthisis</a></span><ul><li><span class="matched_ds">Nephronophthisis 3</span></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_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/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/29717526">Nephronophthisis: A review of genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo F,
|
||
Tao YH</span><br />
|
||
<span class="medgenPMjournal">Nephrology (Carlton)</span>
|
||
2018 Oct;23(10):904-911.
|
||
Epub 2018 Jun 21
|
||
doi: 10.1111/nep.13393.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29717526" target="_blank">29717526</a><a href="/pmc/articles/PMC6175366" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(nephronophthisis%203)%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/36990420">Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang J,
|
||
Li S,
|
||
Jiang Y,
|
||
Wang Y,
|
||
Ouyang J,
|
||
Yi Z,
|
||
Sun W,
|
||
Jia X,
|
||
Xiao X,
|
||
Wang P,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2023 Aug;252:188-204.
|
||
Epub 2023 Mar 27
|
||
doi: 10.1016/j.ajo.2023.03.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36990420" target="_blank">36990420</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35987473">NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ijaz A,
|
||
Alfadhli F,
|
||
Alharbi A,
|
||
Khan YN,
|
||
Alhawas YK,
|
||
Hashmi JA,
|
||
Wali A,
|
||
Basit S</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2022 Oct;65(10):104578.
|
||
Epub 2022 Aug 17
|
||
doi: 10.1016/j.ejmg.2022.104578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35987473" target="_blank">35987473</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/31821705">Nephronophthisis due to a novel DCDC2 variant in a patient from African-Caribbean descent: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Slater B,
|
||
Bekheirnia N,
|
||
Angelo J,
|
||
Bi W,
|
||
Braun MC,
|
||
Bekheirnia MR</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Mar;182(3):527-531.
|
||
Epub 2019 Dec 10
|
||
doi: 10.1002/ajmg.a.61440.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31821705" target="_blank">31821705</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29717526">Nephronophthisis: A review of genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo F,
|
||
Tao YH</span><br />
|
||
<span class="medgenPMjournal">Nephrology (Carlton)</span>
|
||
2018 Oct;23(10):904-911.
|
||
Epub 2018 Jun 21
|
||
doi: 10.1111/nep.13393.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29717526" target="_blank">29717526</a><a href="/pmc/articles/PMC6175366" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephronophthisis%203%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 (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36990420">Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang J,
|
||
Li S,
|
||
Jiang Y,
|
||
Wang Y,
|
||
Ouyang J,
|
||
Yi Z,
|
||
Sun W,
|
||
Jia X,
|
||
Xiao X,
|
||
Wang P,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2023 Aug;252:188-204.
|
||
Epub 2023 Mar 27
|
||
doi: 10.1016/j.ajo.2023.03.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36990420" target="_blank">36990420</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36253741">Renal-hepatic-pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu H,
|
||
Zhao ZH,
|
||
Zhu SY,
|
||
Xiong F,
|
||
He LH,
|
||
Zhang Y,
|
||
Wang J</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2022 Oct 18;22(1):603.
|
||
doi: 10.1186/s12887-022-03659-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36253741" target="_blank">36253741</a><a href="/pmc/articles/PMC9578240" 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 class="nl"><a target="_blank" href="/pubmed/29717526">Nephronophthisis: A review of genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo F,
|
||
Tao YH</span><br />
|
||
<span class="medgenPMjournal">Nephrology (Carlton)</span>
|
||
2018 Oct;23(10):904-911.
|
||
Epub 2018 Jun 21
|
||
doi: 10.1111/nep.13393.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29717526" target="_blank">29717526</a><a href="/pmc/articles/PMC6175366" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29575630">Isosorbide dinitrate in nephronophthisis treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strong A,
|
||
Muneeruddin S,
|
||
Parrish R,
|
||
Lui D,
|
||
Conley SB</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Apr;176(4):1023-1026.
|
||
doi: 10.1002/ajmg.a.38650.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29575630" target="_blank">29575630</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephronophthisis%203%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 (12)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31922211">Auxiliary genetic analysis in a Chinese adolescent NPH family by single nucleotide polymorphism screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang C,
|
||
Zhou D,
|
||
Tan R,
|
||
Zhong X,
|
||
Xiao X,
|
||
Qin D,
|
||
Liu Y,
|
||
Hu J,
|
||
Liu Y</span><br />
|
||
<span class="medgenPMjournal">Mol Med Rep</span>
|
||
2020 Mar;21(3):1115-1124.
|
||
Epub 2020 Jan 8
|
||
doi: 10.3892/mmr.2020.10917.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31922211" target="_blank">31922211</a><a href="/pmc/articles/PMC7003018" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30071318">Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stokman MF,
|
||
Bijnsdorp IV,
|
||
Schelfhorst T,
|
||
Pham TV,
|
||
Piersma SR,
|
||
Knol JC,
|
||
Giles RH,
|
||
Bongers EMHF,
|
||
Knoers NVAM,
|
||
Lilien MR,
|
||
Jiménez CR,
|
||
Renkema KY</span><br />
|
||
<span class="medgenPMjournal">J Proteomics</span>
|
||
2019 Feb 10;192:27-36.
|
||
Epub 2018 Jul 30
|
||
doi: 10.1016/j.jprot.2018.07.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30071318" target="_blank">30071318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29575630">Isosorbide dinitrate in nephronophthisis treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strong A,
|
||
Muneeruddin S,
|
||
Parrish R,
|
||
Lui D,
|
||
Conley SB</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Apr;176(4):1023-1026.
|
||
doi: 10.1002/ajmg.a.38650.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29575630" target="_blank">29575630</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephronophthisis%203%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36878198">Identification of a Splicing Variant c.3813-3A&gt;G in NPHP3 by Reanalysis of Whole Exome Sequencing in a Chinese Boy with Nephronophthisis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang X,
|
||
Zhi X,
|
||
Wang X,
|
||
Dong Y,
|
||
Shu J,
|
||
Wang W,
|
||
Cai C</span><br />
|
||
<span class="medgenPMjournal">Nephron</span>
|
||
2023;147(9):572-582.
|
||
Epub 2023 Mar 6
|
||
doi: 10.1159/000529472.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36878198" target="_blank">36878198</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30071318">Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stokman MF,
|
||
Bijnsdorp IV,
|
||
Schelfhorst T,
|
||
Pham TV,
|
||
Piersma SR,
|
||
Knol JC,
|
||
Giles RH,
|
||
Bongers EMHF,
|
||
Knoers NVAM,
|
||
Lilien MR,
|
||
Jiménez CR,
|
||
Renkema KY</span><br />
|
||
<span class="medgenPMjournal">J Proteomics</span>
|
||
2019 Feb 10;192:27-36.
|
||
Epub 2018 Jul 30
|
||
doi: 10.1016/j.jprot.2018.07.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30071318" target="_blank">30071318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29717526">Nephronophthisis: A review of genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo F,
|
||
Tao YH</span><br />
|
||
<span class="medgenPMjournal">Nephrology (Carlton)</span>
|
||
2018 Oct;23(10):904-911.
|
||
Epub 2018 Jun 21
|
||
doi: 10.1111/nep.13393.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29717526" target="_blank">29717526</a><a href="/pmc/articles/PMC6175366" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephronophthisis%203%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39408701">Vinblastine Resistance Is Associated with Nephronophthisis 3-Mediated Primary Cilia via Intraflagellar Transport Protein 88 and Apoptosis-Antagonizing Transcription Factor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thuy PX,
|
||
Jang TK,
|
||
Moon EY</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Sep 26;25(19)
|
||
doi: 10.3390/ijms251910369.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39408701" target="_blank">39408701</a><a href="/pmc/articles/PMC11477320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36990420">Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang J,
|
||
Li S,
|
||
Jiang Y,
|
||
Wang Y,
|
||
Ouyang J,
|
||
Yi Z,
|
||
Sun W,
|
||
Jia X,
|
||
Xiao X,
|
||
Wang P,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2023 Aug;252:188-204.
|
||
Epub 2023 Mar 27
|
||
doi: 10.1016/j.ajo.2023.03.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36990420" target="_blank">36990420</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36878198">Identification of a Splicing Variant c.3813-3A&gt;G in NPHP3 by Reanalysis of Whole Exome Sequencing in a Chinese Boy with Nephronophthisis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang X,
|
||
Zhi X,
|
||
Wang X,
|
||
Dong Y,
|
||
Shu J,
|
||
Wang W,
|
||
Cai C</span><br />
|
||
<span class="medgenPMjournal">Nephron</span>
|
||
2023;147(9):572-582.
|
||
Epub 2023 Mar 6
|
||
doi: 10.1159/000529472.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36878198" target="_blank">36878198</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/31048733">Thymosin β-4 is a novel regulator for primary cilium formation by nephronophthisis 3 in HeLa human cervical cancer cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee JW,
|
||
Kim HS,
|
||
Moon EY</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2019 May 2;9(1):6849.
|
||
doi: 10.1038/s41598-019-43235-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31048733" target="_blank">31048733</a><a href="/pmc/articles/PMC6497666" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephronophthisis%203%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 (5)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1858392%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (36)</a></li>
|
||
<li><a href="/gtr/tests?term=C1858392%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1858392%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (44)</a></li>
|
||
<li><a href="/gtr/tests?term=C1858392%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1858392%5bDISCUI%5d" target="_blank">See all (52)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=604387" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Nephronophthisis%203" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(nephronophthisis%203)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=608002" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=27031[geneid]" target="_blank">View NPHP3 variations in ClinVar</a></li><li><a href="/nuccore/193211450" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=604387" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Adolescent+nephronophthisis/7636" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/nephronophthisis_3" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Nephronophthisis%203" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/nephronophthisis" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18179/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/27336129" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Nephronophthisis%203" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Nephronophthisis%203%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
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|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=346809" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=346809" ref="log$=recordlinks">Gene</a>
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