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<meta name="keywords" content="C3150652, disease or syndrome, fanconi renotubular syndrome 2, fanconi renotubular syndrome type 2, fanconi syndrome caused by mutation in slc34a1, frts2, slc34a1, slc34a1 fanconi syndrome, 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="Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=462002
|
||
ConceptID=C3150652
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Fanconi renotubular syndrome 2<span class="h1sub">(FRTS2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462002</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:">C3150652</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>FRTS2</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="SLC34A1 - ID: 6569 - NCBI Gene" href="/gene/6569" class="medgenPMinfo">SLC34A1</a> (5q35.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013247" target="_blank">MONDO:0013247</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613388" target="_blank">613388</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">Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</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_57489"><div><strong>Bone pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57489</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.">C0151825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57489">Feature record</a> | <a href="/medgen?term=%22Bone%20pain%22%5BClinical%20Features%5D%20OR%2057489%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42267"><div><strong>Glycosuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42267</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.">C0017979</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of glucose in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42267">Feature record</a> | <a href="/medgen?term=%22Glycosuria%22%5BClinical%20Features%5D%20OR%2042267%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43775"><div><strong>Hypercalciuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43775</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.">C0020438</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally high level of calcium in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43775">Feature record</a> | <a href="/medgen?term=%22Hypercalciuria%22%5BClinical%20Features%5D%20OR%2043775%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_163428"><div><strong>Decreased glomerular filtration rate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163428</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.">C0853068</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163428">Feature record</a> | <a href="/medgen?term=%22Decreased%20glomerular%20filtration%20rate%22%5BClinical%20Features%5D%20OR%20163428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332529"><div><strong>Renal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332529</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1565489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332529">Feature record</a> | <a href="/medgen?term=%22Renal%20insufficiency%22%5BClinical%20Features%5D%20OR%20332529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326534"><div><strong>Proximal tubulopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326534</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.">C1839603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326534">Feature record</a> | <a href="/medgen?term=%22Proximal%20tubulopathy%22%5BClinical%20Features%5D%20OR%20326534%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335116"><div><strong>Renal phosphate wasting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335116</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.">C1845169</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">High urine phosphate in the presence of hypophosphatemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335116">Feature record</a> | <a href="/medgen?term=%22Renal%20phosphate%20wasting%22%5BClinical%20Features%5D%20OR%20335116%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339863"><div><strong>Generalized aminoaciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339863</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.">C1847868</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of all types of amino acid in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339863">Feature record</a> | <a href="/medgen?term=%22Generalized%20aminoaciduria%22%5BClinical%20Features%5D%20OR%20339863%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42094"><div><strong>Recurrent fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42094</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.">C0016655</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Injury or Poisoning</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Recurrent%20fractures%22%5BClinical%20Features%5D%20OR%2042094%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14533"><div><strong>Osteomalacia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14533</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.">C0029442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14533">Feature record</a> | <a href="/medgen?term=%22Osteomalacia%22%5BClinical%20Features%5D%20OR%2014533%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18222"><div><strong>Osteopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18222</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.">C0029453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18222">Feature record</a> | <a href="/medgen?term=%22Osteopenia%22%5BClinical%20Features%5D%20OR%2018222%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48470"><div><strong>Rickets</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48470</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0035579</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48470">Feature record</a> | <a href="/medgen?term=%22Rickets%22%5BClinical%20Features%5D%20OR%2048470%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39327"><div><strong>Hypophosphatemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39327</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.">C0085682</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased phosphate concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39327">Feature record</a> | <a href="/medgen?term=%22Hypophosphatemia%22%5BClinical%20Features%5D%20OR%2039327%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_167805"><div><strong>Elevated circulating parathyroid hormone level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167805</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.">C0857973</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increased concentration of parathyroid hormone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167805">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20parathyroid%20hormone%20level%22%5BClinical%20Features%5D%20OR%20167805%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1619023"><div><strong>High serum calcitriol</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1619023</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.">C4531136</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1619023">Feature record</a> | <a href="/medgen?term=%22High%20serum%20calcitriol%22%5BClinical%20Features%5D%20OR%201619023%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 metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_167805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating parathyroid hormone level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1619023" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High serum calcitriol</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemia</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_163428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased glomerular filtration rate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339863" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized aminoaciduria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42267" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycosuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43775" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercalciuria</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_326534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal tubulopathy</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_335116" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal phosphate wasting</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14533" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteomalacia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent fractures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rickets</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57489" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone pain</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_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</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/38802119">Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Overduin RJ,
|
||
Grünert SC,
|
||
Besouw MTP,
|
||
Bolhuis MS,
|
||
Groen J,
|
||
Schreuder AB,
|
||
Woidy M,
|
||
Murko S,
|
||
Santer R,
|
||
Derks TGJ</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2024 Sep;47(5):1018-1027.
|
||
Epub 2024 May 27
|
||
doi: 10.1002/jimd.12752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38802119" target="_blank">38802119</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38365697">Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Du T,
|
||
Xia Y,
|
||
Sun C,
|
||
Gong Z,
|
||
Liang L,
|
||
Gong Z,
|
||
Wang R,
|
||
Lu D,
|
||
Zhang K,
|
||
Yang Y,
|
||
Sun Y,
|
||
Sun M,
|
||
Sun Y,
|
||
Xiao B,
|
||
Qiu W</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Feb 16;19(1):75.
|
||
doi: 10.1186/s13023-024-03070-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38365697" target="_blank">38365697</a><a href="/pmc/articles/PMC10874070" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28411145">Current and future role of genetic screening in gynecologic malignancies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ring KL,
|
||
Garcia C,
|
||
Thomas MH,
|
||
Modesitt SC</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2017 Nov;217(5):512-521.
|
||
Epub 2017 Apr 12
|
||
doi: 10.1016/j.ajog.2017.04.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28411145" target="_blank">28411145</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(fanconi%20renotubular%20syndrome%202)%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 (38)</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/32591997">Renal Tubular Acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bagga A,
|
||
Sinha A</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2020 Sep;87(9):733-744.
|
||
Epub 2020 Jun 26
|
||
doi: 10.1007/s12098-020-03318-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32591997" target="_blank">32591997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30047418">Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Savage SA,
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<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
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|
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|
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|
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<div class="nl"><a target="_blank" href="/pubmed/28135145">Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yurgelun MB,
|
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Kulke MH,
|
||
Fuchs CS,
|
||
Allen BA,
|
||
Uno H,
|
||
Hornick JL,
|
||
Ukaegbu CI,
|
||
Brais LK,
|
||
McNamara PG,
|
||
Mayer RJ,
|
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Schrag D,
|
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Meyerhardt JA,
|
||
Ng K,
|
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Kidd J,
|
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Singh N,
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Hartman AR,
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Wenstrup RJ,
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Syngal S</span><br />
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Epub 2017 Jan 30
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<span class="bold">PMID: </span><a href="/pubmed/28135145" target="_blank">28135145</a><a href="/pmc/articles/PMC5455355" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/26568188">Renal involvement in primary Sjögren syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">François H,
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Mariette X</span><br />
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<span class="medgenPMjournal">Nat Rev Nephrol</span>
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2016 Feb;12(2):82-93.
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Epub 2015 Nov 16
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doi: 10.1038/nrneph.2015.174.
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<span class="bold">PMID: </span><a href="/pubmed/26568188" target="_blank">26568188</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25421524">GLUT2, glucose sensing and glucose homeostasis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thorens B</span><br />
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<span class="medgenPMjournal">Diabetologia</span>
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2015 Feb;58(2):221-32.
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Epub 2014 Nov 25
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doi: 10.1007/s00125-014-3451-1.
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<span class="bold">PMID: </span><a href="/pubmed/25421524" target="_blank">25421524</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20renotubular%20syndrome%202%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (409)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33283647">Novel Fanconi renotubular syndromes provide insights in proximal tubule pathophysiology.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lemaire M</span><br />
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<span class="medgenPMjournal">Am J Physiol Renal Physiol</span>
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2021 Feb 1;320(2):F145-F160.
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<span class="bold">PMID: </span><a href="/pubmed/33283647" target="_blank">33283647</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32591997">Renal Tubular Acidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bagga A,
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<span class="medgenPMjournal">Indian J Pediatr</span>
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2020 Sep;87(9):733-744.
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Epub 2020 Jun 26
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<span class="bold">PMID: </span><a href="/pubmed/32591997" target="_blank">32591997</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26568188">Renal involvement in primary Sjögren syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">François H,
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<span class="medgenPMjournal">Nat Rev Nephrol</span>
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2016 Feb;12(2):82-93.
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Epub 2015 Nov 16
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doi: 10.1038/nrneph.2015.174.
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<span class="bold">PMID: </span><a href="/pubmed/26568188" target="_blank">26568188</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25421524">GLUT2, glucose sensing and glucose homeostasis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thorens B</span><br />
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<span class="medgenPMjournal">Diabetologia</span>
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2015 Feb;58(2):221-32.
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Epub 2014 Nov 25
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doi: 10.1007/s00125-014-3451-1.
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<span class="bold">PMID: </span><a href="/pubmed/25421524" target="_blank">25421524</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21846383">VACTERL/VATER Association.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Solomon BD</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/21846383" target="_blank">21846383</a><a href="/pmc/articles/PMC3169446" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20renotubular%20syndrome%202%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (448)</a></div><h3 class="subhead">Therapy</h3>
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<span class="bold">PMID: </span><a href="/pubmed/38723749" target="_blank">38723749</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37910600">The SGLT2 inhibitor dapagliflozin improves kidney function in glycogen storage disease XI.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Trepiccione F,
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Iervolino A,
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2023 Nov;15(720):eabn4214.
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<span class="bold">PMID: </span><a href="/pubmed/37910600" target="_blank">37910600</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33858731">Tyrosinemia type 1 in pediatric nephrology: Not always straightforward.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brito Dos Santos S,
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Bertholet-Thomas A,
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<div class="nl"><a target="_blank" href="/pubmed/32016627">Adult complications of nephropathic cystinosis: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kasimer RN,
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Langman CB</span><br />
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<span class="medgenPMjournal">Pediatr Nephrol</span>
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2021 Feb;36(2):223-236.
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Epub 2020 Feb 3
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<span class="bold">PMID: </span><a href="/pubmed/32016627" target="_blank">32016627</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/9204244">Nephrocalcinosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Alon US</span><br />
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<span class="medgenPMjournal">Curr Opin Pediatr</span>
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1997 Apr;9(2):160-5.
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<span class="bold">PMID: </span><a href="/pubmed/9204244" target="_blank">9204244</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20renotubular%20syndrome%202%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 (303)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38723749">Monoclonal immunoglobulin crystalline nephropathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nasr SH,
|
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Sirac C,
|
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Leung N,
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Bridoux F</span><br />
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<span class="medgenPMjournal">Kidney Int</span>
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2024 Aug;106(2):201-213.
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Epub 2024 May 7
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doi: 10.1016/j.kint.2024.02.027.
|
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<span class="bold">PMID: </span><a href="/pubmed/38723749" target="_blank">38723749</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28135145">Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yurgelun MB,
|
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Kulke MH,
|
||
Fuchs CS,
|
||
Allen BA,
|
||
Uno H,
|
||
Hornick JL,
|
||
Ukaegbu CI,
|
||
Brais LK,
|
||
McNamara PG,
|
||
Mayer RJ,
|
||
Schrag D,
|
||
Meyerhardt JA,
|
||
Ng K,
|
||
Kidd J,
|
||
Singh N,
|
||
Hartman AR,
|
||
Wenstrup RJ,
|
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Syngal S</span><br />
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<span class="medgenPMjournal">J Clin Oncol</span>
|
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2017 Apr 1;35(10):1086-1095.
|
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Epub 2017 Jan 30
|
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doi: 10.1200/JCO.2016.71.0012.
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<span class="bold">PMID: </span><a href="/pubmed/28135145" target="_blank">28135145</a><a href="/pmc/articles/PMC5455355" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26568188">Renal involvement in primary Sjögren syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">François H,
|
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Mariette X</span><br />
|
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<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
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2016 Feb;12(2):82-93.
|
||
Epub 2015 Nov 16
|
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doi: 10.1038/nrneph.2015.174.
|
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<span class="bold">PMID: </span><a href="/pubmed/26568188" target="_blank">26568188</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/21846383">VACTERL/VATER Association.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Solomon BD</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2011 Aug 16;6:56.
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doi: 10.1186/1750-1172-6-56.
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<span class="bold">PMID: </span><a href="/pubmed/21846383" target="_blank">21846383</a><a href="/pmc/articles/PMC3169446" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20946626">Dent's disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Devuyst O,
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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<span class="bold">PMID: </span><a href="/pubmed/20946626" target="_blank">20946626</a><a href="/pmc/articles/PMC2964617" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20renotubular%20syndrome%202%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 (207)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/38310177">Inherited Fanconi renotubular syndromes: unveiling the intricacies of hypophosphatemic rickets/osteomalacia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ragate DC,
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Memon SS,
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Karlekar M,
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Lila AR,
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Sarathi V,
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Jamale T,
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Patil VA,
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Shah NS,
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<span class="bold">PMID: </span><a href="/pubmed/38310177" target="_blank">38310177</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37678265">Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Viering DHHM,
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Vermeltfoort L,
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Bindels RJM,
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Deinum J,
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de Baaij JHF</span><br />
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Epub 2023 Sep 6
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<span class="bold">PMID: </span><a href="/pubmed/37678265" target="_blank">37678265</a><a href="/pmc/articles/PMC10631606" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28135145">Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yurgelun MB,
|
||
Kulke MH,
|
||
Fuchs CS,
|
||
Allen BA,
|
||
Uno H,
|
||
Hornick JL,
|
||
Ukaegbu CI,
|
||
Brais LK,
|
||
McNamara PG,
|
||
Mayer RJ,
|
||
Schrag D,
|
||
Meyerhardt JA,
|
||
Ng K,
|
||
Kidd J,
|
||
Singh N,
|
||
Hartman AR,
|
||
Wenstrup RJ,
|
||
Syngal S</span><br />
|
||
<span class="medgenPMjournal">J Clin Oncol</span>
|
||
2017 Apr 1;35(10):1086-1095.
|
||
Epub 2017 Jan 30
|
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doi: 10.1200/JCO.2016.71.0012.
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||
<span class="bold">PMID: </span><a href="/pubmed/28135145" target="_blank">28135145</a><a href="/pmc/articles/PMC5455355" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/26759048">Megalin and cubilin in proximal tubule protein reabsorption: from experimental models to human disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nielsen R,
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Christensen EI,
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Birn H</span><br />
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<span class="medgenPMjournal">Kidney Int</span>
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2016 Jan;89(1):58-67.
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doi: 10.1016/j.kint.2015.11.007.
|
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<span class="bold">PMID: </span><a href="/pubmed/26759048" target="_blank">26759048</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22505525">Hereditary breast cancer: beyond BRCA genetic analysis; PALB2 emerges.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Poumpouridou N,
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Kroupis C</span><br />
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<span class="medgenPMjournal">Clin Chem Lab Med</span>
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2011 Dec 23;50(3):423-34.
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|
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<span class="bold">PMID: </span><a href="/pubmed/22505525" target="_blank">22505525</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20renotubular%20syndrome%202%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (235)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37678265">Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Viering DHHM,
|
||
Vermeltfoort L,
|
||
Bindels RJM,
|
||
Deinum J,
|
||
de Baaij JHF</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2023 Nov 1;34(11):1875-1888.
|
||
Epub 2023 Sep 6
|
||
doi: 10.1681/ASN.0000000000000224.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37678265" target="_blank">37678265</a><a href="/pmc/articles/PMC10631606" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36114663">Systemic conditions associated with increased risk to develop oral squamous cell carcinoma: Systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dos Santos ES,
|
||
Pérez-de-Oliveira ME,
|
||
Normando AGC,
|
||
Gueiros LAM,
|
||
Rogatto SR,
|
||
Vargas PA,
|
||
Lopes MA,
|
||
da Silva Guerra EN,
|
||
Leme AFP,
|
||
Santos-Silva AR</span><br />
|
||
<span class="medgenPMjournal">Head Neck</span>
|
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2022 Dec;44(12):2925-2937.
|
||
Epub 2022 Sep 16
|
||
doi: 10.1002/hed.27193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36114663" target="_blank">36114663</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32016627">Adult complications of nephropathic cystinosis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kasimer RN,
|
||
Langman CB</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2021 Feb;36(2):223-236.
|
||
Epub 2020 Feb 3
|
||
doi: 10.1007/s00467-020-04487-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32016627" target="_blank">32016627</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28692321">A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Medic G,
|
||
van der Weijden M,
|
||
Karabis A,
|
||
Hemels M</span><br />
|
||
<span class="medgenPMjournal">Curr Med Res Opin</span>
|
||
2017 Nov;33(11):2065-2076.
|
||
Epub 2017 Aug 3
|
||
doi: 10.1080/03007995.2017.1354288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28692321" target="_blank">28692321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26919824">Efficacy, effectiveness and safety of fumaric acid esters in the treatment of psoriasis: a systematic review of randomized and observational studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balak DM,
|
||
Fallah Arani S,
|
||
Hajdarbegovic E,
|
||
Hagemans CA,
|
||
Bramer WM,
|
||
Thio HB,
|
||
Neumann HA</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2016 Aug;175(2):250-62.
|
||
Epub 2016 Jul 19
|
||
doi: 10.1111/bjd.14500.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26919824" target="_blank">26919824</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20renotubular%20syndrome%202%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
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<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=C3150652%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150652%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150652%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150652%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3150652%5bDISCUI%5d" target="_blank">See all (28)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<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=613388" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Fanconi%20renotubular%20syndrome%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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<div class="portlet mgSection" id="ID_121">
|
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<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=(fanconi%20renotubular%20syndrome%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Fanconi%20renotubular%20syndrome%202%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
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|
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<div class="portlet mgSection" id="ID_115">
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|
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=182309" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6569[geneid]" target="_blank">View SLC34A1 variations in ClinVar</a></li><li><a href="/nuccore/281306742" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=613388" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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|
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Fanconi+renotubular+syndrome+2/8422" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/fanconi_renotubular_syndrome_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Fanconi%20renotubular%20syndrome%202" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15655/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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|
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<div class="portlet brieflink">
|
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<div class="portlet_head">
|
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|
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<ul>
|
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<li>
|
||
<a href="/pubmed/clinical?term=Fanconi%20renotubular%20syndrome%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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|
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<a href="/pubmed?term=Fanconi%20renotubular%20syndrome%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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||
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|
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||
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|
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|
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=462002" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=462002" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3150652[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
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|
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=462002" ref="log$=recordlinks">OMIM(Genes)</a>
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<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=462002" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=462002" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=462002" ref="log$=recordlinks">PubMed (OMIM)</a>
|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc38fb84f3725e59862b19">Fanconi renotubular syndrome 2</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc38f8f4a390645e8a848d">C4551503[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(78)</span></a>
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<div class="ralinkpop offscreen_noflow">C4551503[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cc38f6b15b832ebc419d9a">C4551503[conceptid] <span class="number">(1)</span></a>
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