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<meta name="keywords" content="C0268626, adolescent cystinosis, congenital abnormality, ctns, cystinosis, intermediate, cystinosis, late-onset juvenile or adolescent nephropathic, cystinosis, late-onset juvenile or adolescent nephropathic type, cystinosis, type ii, disease or syndrome, intermediate cystinosis, juvenile cystinosis, juvenile nephropathic cystinosis, late-onset cystinosis, 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="Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=75701
|
||
ConceptID=C0268626
|
||
-->
|
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<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1400/bin/ctns-Image001.gif" src-large="/books/NBK1400/bin/ctns-Image001.jpg" /></a><br /><a href="/books/NBK1400/figure/ctns.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1400/bin/ctns-Image002.gif" src-large="/books/NBK1400/bin/ctns-Image002.jpg" /></a><br /><a href="/books/NBK1400/figure/ctns.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Juvenile nephropathic cystinosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75701</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.">C0268626</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; Intermediate Cystinosis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Juvenile nephropathic cystinosis (22830006); Adolescent cystinosis (22830006); Intermediate cystinosis (22830006); Late-onset cystinosis (22830006); Cystinosis, type II (22830006); Juvenile cystinosis (22830006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></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="CTNS - ID: 1497 - NCBI Gene" href="/gene/1497" class="medgenPMinfo">CTNS</a> (17p13.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009066" target="_blank">MONDO:0009066</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/219900" target="_blank">219900</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=411634">ORPHA411634</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1400" target="_blank">Cystinosis</a></div><div>Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1400#ctns.Summary" target="NBK1400">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.GeneReview_Scope" target="NBK1400">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Diagnosis" target="NBK1400">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Clinical_Characteristics" target="NBK1400">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Genetically_Related_Allelic_Disorde" target="NBK1400">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Differential_Diagnosis" target="NBK1400">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Management" target="NBK1400">Management</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Genetic_Counseling" target="NBK1400">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Resources" target="NBK1400">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Molecular_Genetics" target="NBK1400">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.Chapter_Notes" target="NBK1400">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1400#ctns.References" target="NBK1400">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Galina Nesterova | William A Gahl <a href="/books/NBK1400" target="NBK1400" title="NCBI Bookshelf: Cystinosis">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_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_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_808205"><div><strong>Growth abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>808205</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.">C0262361</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/808205">Feature record</a> | <a href="/medgen?term=%22Growth%20abnormality%22%5BClinical%20Features%5D%20OR%20808205%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43220"><div><strong>Photophobia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43220</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.">C0085636</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43220">Feature record</a> | <a href="/medgen?term=%22Photophobia%22%5BClinical%20Features%5D%20OR%2043220%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_11209"><div><strong>Retinal disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11209</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.">C0035309</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11209">Feature record</a> | <a href="/medgen?term=%22Retinal%20disorder%22%5BClinical%20Features%5D%20OR%2011209%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_853135"><div><strong>Corneal crystals</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853135</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.">C1096610</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853135">Feature record</a> | <a href="/medgen?term=%22Corneal%20crystals%22%5BClinical%20Features%5D%20OR%20853135%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347513"><div><strong>Retinal pigment epithelial mottling</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347513</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.">C1857644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347513">Feature record</a> | <a href="/medgen?term=%22Retinal%20pigment%20epithelial%20mottling%22%5BClinical%20Features%5D%20OR%20347513%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871150"><div><strong>Elevated intracellular cystine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871150</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.">C4025623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871150">Feature record</a> | <a href="/medgen?term=%22Elevated%20intracellular%20cystine%22%5BClinical%20Features%5D%20OR%20871150%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">Abnormal cellular phenotype</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated intracellular cystine</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853135" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal crystals</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347513" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal pigment epithelial mottling</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_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_384526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stage 5 chronic kidney disease</a></span></li></ul></li><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_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">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43220" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Photophobia</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_808205" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth abnormality</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=C4316899[DISCUI]&test_type=Clinical" ref="ncbi_uid=1384792">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1384792" target="_blank" href="/omim/219800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1400/" ref="ncbi_uid=1384792">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1384792" ref="ncbi_uid=1384792">V</a></span></span><span class="TLline"><a href="/medgen/1384792" ref="tree=GTR&ncbi_uid=1384792&link_uid=1384792" title="View MedGen record for 'Cystinosis'">Cystinosis</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=C2931187[DISCUI]&test_type=Clinical" ref="ncbi_uid=419735">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419735" target="_blank" href="/omim/219800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1400/" ref="ncbi_uid=419735">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419735" ref="ncbi_uid=419735">V</a></span></span><span class="TLline"><a href="/medgen/419735" ref="tree=GTR&ncbi_uid=419735&link_uid=419735" title="View MedGen record for 'Nephropathic cystinosis'">Nephropathic cystinosis</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=C3537440[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=760976">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=760976" target="_blank" href="/omim/219800">O</a></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=760976" ref="ncbi_uid=760976">V</a></span></span><span class="TLline"><a href="/medgen/760976" ref="tree=GTR&ncbi_uid=760976&link_uid=760976" title="View MedGen record for 'Infantile nephropathic cystinosis'">Infantile nephropathic cystinosis</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=C0268626[DISCUI]&test_type=Clinical" ref="ncbi_uid=75701">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75701" target="_blank" href="/omim/219900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1400/" ref="ncbi_uid=75701">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75701" ref="ncbi_uid=75701">V</a></span></span><span class="TLline">Juvenile nephropathic cystinosis</span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931013[DISCUI]&test_type=Clinical" ref="ncbi_uid=419313">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419313" target="_blank" href="/omim/219750">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1400/" ref="ncbi_uid=419313">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419313" ref="ncbi_uid=419313">V</a></span></span><span class="TLline"><a href="/medgen/419313" ref="tree=GTR&ncbi_uid=419313&link_uid=419313" title="View MedGen record for 'Ocular cystinosis'">Ocular cystinosis</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/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="TLline"><a href="/medgen/1384792" ref="tree=MeSH" title="MedGen record for Cystinosis">Cystinosis</a></span><ul><li><span class="matched_ds">Juvenile nephropathic cystinosis</span></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/18752449">Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alcántara-Ortigoza MA,
|
||
Belmont-Martínez L,
|
||
Vela-Amieva M,
|
||
González-Del Angel A</span><br />
|
||
<span class="medgenPMjournal">Genet Test</span>
|
||
2008 Sep;12(3):409-14.
|
||
doi: 10.1089/gte.2008.0014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18752449" target="_blank">18752449</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10558441">Cysteamine: new preparation. Chronic treatment of cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Prescrire Int</span>
|
||
1999 Jun;8(41):67-70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10558441" target="_blank">10558441</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3126713">Long term outcome of treatment of end stage renal failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Henning P,
|
||
Tomlinson L,
|
||
Rigden SP,
|
||
Haycock GB,
|
||
Chantler C</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1988 Jan;63(1):35-40.
|
||
doi: 10.1136/adc.63.1.35.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3126713" target="_blank">3126713</a><a href="/pmc/articles/PMC1779326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(juvenile%20nephropathic%20cystinosis)%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 (3)</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/33822926">Testicular function in males with infantile nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rohayem J,
|
||
Haffner D,
|
||
Cremers JF,
|
||
Huss S,
|
||
Wistuba J,
|
||
Weitzel D,
|
||
Kliesch S,
|
||
Hohenfellner K</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod</span>
|
||
2021 Apr 20;36(5):1191-1204.
|
||
doi: 10.1093/humrep/deab030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33822926" target="_blank">33822926</a><a href="/pmc/articles/PMC8058591" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20nephropathic%20cystinosis%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 (1)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37572116">Multinucleated podocytes as a clue to diagnosis of juvenile nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ogata A,
|
||
Deki S,
|
||
Uchimura T,
|
||
Inaba A,
|
||
Otani M,
|
||
Ito S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2024 Feb;39(2):609-612.
|
||
Epub 2023 Aug 12
|
||
doi: 10.1007/s00467-023-06103-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37572116" target="_blank">37572116</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34097292">More than tubular dysfunction: cystinosis and kidney outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atmis B,
|
||
K Bayazit A,
|
||
Cevizli D,
|
||
Kor D,
|
||
Fidan HB,
|
||
Bisgin A,
|
||
Kilavuz S,
|
||
Unal I,
|
||
Erdogan KE,
|
||
Melek E,
|
||
Gonlusen G,
|
||
Anarat A,
|
||
Onenli Mungan N</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2022 Apr;35(3):831-840.
|
||
Epub 2021 Jun 7
|
||
doi: 10.1007/s40620-021-01078-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34097292" target="_blank">34097292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33822926">Testicular function in males with infantile nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rohayem J,
|
||
Haffner D,
|
||
Cremers JF,
|
||
Huss S,
|
||
Wistuba J,
|
||
Weitzel D,
|
||
Kliesch S,
|
||
Hohenfellner K</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod</span>
|
||
2021 Apr 20;36(5):1191-1204.
|
||
doi: 10.1093/humrep/deab030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33822926" target="_blank">33822926</a><a href="/pmc/articles/PMC8058591" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30348293">Unrecognized juvenile nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schiefer J,
|
||
Zenker M,
|
||
Gröne HJ,
|
||
Chatzikyrkou C,
|
||
Mertens PR,
|
||
Liakopoulos V</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2018 Nov;94(5):1027.
|
||
doi: 10.1016/j.kint.2018.06.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30348293" target="_blank">30348293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15669688">Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: case presentation and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiDomenico P,
|
||
Berry G,
|
||
Bass D,
|
||
Fridge J,
|
||
Sarwal M</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2004;27(5):693-9.
|
||
doi: 10.1023/b:boli.0000043028.97292.70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15669688" target="_blank">15669688</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20nephropathic%20cystinosis%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 (7)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37572116">Multinucleated podocytes as a clue to diagnosis of juvenile nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ogata A,
|
||
Deki S,
|
||
Uchimura T,
|
||
Inaba A,
|
||
Otani M,
|
||
Ito S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2024 Feb;39(2):609-612.
|
||
Epub 2023 Aug 12
|
||
doi: 10.1007/s00467-023-06103-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37572116" target="_blank">37572116</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15669688">Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: case presentation and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiDomenico P,
|
||
Berry G,
|
||
Bass D,
|
||
Fridge J,
|
||
Sarwal M</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2004;27(5):693-9.
|
||
doi: 10.1023/b:boli.0000043028.97292.70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15669688" target="_blank">15669688</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20nephropathic%20cystinosis%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37572116">Multinucleated podocytes as a clue to diagnosis of juvenile nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ogata A,
|
||
Deki S,
|
||
Uchimura T,
|
||
Inaba A,
|
||
Otani M,
|
||
Ito S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2024 Feb;39(2):609-612.
|
||
Epub 2023 Aug 12
|
||
doi: 10.1007/s00467-023-06103-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37572116" target="_blank">37572116</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34097292">More than tubular dysfunction: cystinosis and kidney outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atmis B,
|
||
K Bayazit A,
|
||
Cevizli D,
|
||
Kor D,
|
||
Fidan HB,
|
||
Bisgin A,
|
||
Kilavuz S,
|
||
Unal I,
|
||
Erdogan KE,
|
||
Melek E,
|
||
Gonlusen G,
|
||
Anarat A,
|
||
Onenli Mungan N</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2022 Apr;35(3):831-840.
|
||
Epub 2021 Jun 7
|
||
doi: 10.1007/s40620-021-01078-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34097292" target="_blank">34097292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15669688">Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: case presentation and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiDomenico P,
|
||
Berry G,
|
||
Bass D,
|
||
Fridge J,
|
||
Sarwal M</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2004;27(5):693-9.
|
||
doi: 10.1023/b:boli.0000043028.97292.70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15669688" target="_blank">15669688</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20nephropathic%20cystinosis%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/36674769">The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bondue T,
|
||
Kouraich A,
|
||
Berlingerio SP,
|
||
Veys K,
|
||
Marie S,
|
||
Alsaad KO,
|
||
Al-Sabban E,
|
||
Levtchenko E,
|
||
van den Heuvel L</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Jan 9;24(2)
|
||
doi: 10.3390/ijms24021253.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36674769" target="_blank">36674769</a><a href="/pmc/articles/PMC9864853" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34097292">More than tubular dysfunction: cystinosis and kidney outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atmis B,
|
||
K Bayazit A,
|
||
Cevizli D,
|
||
Kor D,
|
||
Fidan HB,
|
||
Bisgin A,
|
||
Kilavuz S,
|
||
Unal I,
|
||
Erdogan KE,
|
||
Melek E,
|
||
Gonlusen G,
|
||
Anarat A,
|
||
Onenli Mungan N</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2022 Apr;35(3):831-840.
|
||
Epub 2021 Jun 7
|
||
doi: 10.1007/s40620-021-01078-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34097292" target="_blank">34097292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33822926">Testicular function in males with infantile nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rohayem J,
|
||
Haffner D,
|
||
Cremers JF,
|
||
Huss S,
|
||
Wistuba J,
|
||
Weitzel D,
|
||
Kliesch S,
|
||
Hohenfellner K</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod</span>
|
||
2021 Apr 20;36(5):1191-1204.
|
||
doi: 10.1093/humrep/deab030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33822926" target="_blank">33822926</a><a href="/pmc/articles/PMC8058591" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20nephropathic%20cystinosis%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 (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
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||
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|
||
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|
||
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||
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|
||
|
||
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|
||
</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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|
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|
||
<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=C0268626%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268626%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (26)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268626%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268626%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268626%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268626%5bDISCUI%5d" target="_blank">See all (36)</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=219900" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=411634" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Juvenile%20nephropathic%20cystinosis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<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=(juvenile%20nephropathic%20cystinosis)%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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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=75701" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=75701" ref="log$=recordlinks">PubMed (OMIM)</a>
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