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<meta name="keywords" content="2,8-dihydroxyadenine urolithiasis, 2,8-dihydroxyadeninuria disease, C0268120, adenine phosphoribosyl transferase deficiency, adenine phosphoribosyltransferase deficiency, aprt, aprt deficiency, aprtd, deficiency of adenine phosphoribosyltransferase, deficiency of amp pyrophorylase, dihydroxyadeninuria, disease or syndrome, nephrolithiasis, dha, urolithiasis, 2,8-dihydroxyadenine, urolithiasis, dha, 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="Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production and renal excretion of 2,8-dihydroxyadenine (DHA), which leads to kidney stone formation and crystal-induced kidney damage (i.e., DHA crystal nephropathy) causing acute kidney injury episodes and progressive chronic kidney disease (CKD). Kidney stones, the most common clinical manifestation of APRT deficiency, can occur at any age; in at least 50% of affected persons symptoms do not occur until adulthood. If adequate treatment is not provided, approximately 20%-25% of affected individuals develop end-stage renal disease (ESRD), usually in adult life." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=82772
|
||
ConceptID=C0268120
|
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-->
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<!--imgCountBooks = 3--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (3)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK100238/bin/aprt-def-Image003.gif" src-large="/books/NBK100238/bin/aprt-def-Image003.jpg" /></a><br /><a href="/books/NBK100238/figure/aprt-def.F3/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK100238/bin/aprt-def-Image001.gif" src-large="/books/NBK100238/bin/aprt-def-Image001.jpg" /></a><br /><a href="/books/NBK100238/figure/aprt-def.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK100238/bin/aprt-def-Image002.gif" src-large="/books/NBK100238/bin/aprt-def-Image002.jpg" /></a><br /><a href="/books/NBK100238/figure/aprt-def.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Adenine phosphoribosyltransferase deficiency<span class="h1sub">(APRTD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82772</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:">C0268120</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>APRT DEFICIENCY; APRTD; Dihydroxyadeninuria; NEPHROLITHIASIS, DHA; UROLITHIASIS, 2,8-DIHYDROXYADENINE; Urolithiasis, dha</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Adenine phosphoribosyl transferase deficiency (124274002); Deficiency of AMP pyrophorylase (124274002); Deficiency of adenine phosphoribosyltransferase (124274002)</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="APRT - ID: 353 - NCBI Gene" href="/gene/353" class="medgenPMinfo">APRT</a> (16q24.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013869" target="_blank">MONDO:0013869</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614723" target="_blank">614723</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=976">ORPHA976</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_101">
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||
<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/NBK100238" target="_blank">Adenine Phosphoribosyltransferase Deficiency</a></div><div>Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production and renal excretion of 2,8-dihydroxyadenine (DHA), which leads to kidney stone formation and crystal-induced kidney damage (i.e., DHA crystal nephropathy) causing acute kidney injury episodes and progressive chronic kidney disease (CKD). Kidney stones, the most common clinical manifestation of APRT deficiency, can occur at any age; in at least 50% of affected persons symptoms do not occur until adulthood. If adequate treatment is not provided, approximately 20%-25% of affected individuals develop end-stage renal disease (ESRD), usually in adult life. [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/NBK100238#aprt-def.Summary" target="NBK100238">Summary</a> | <a class="medgenPMinfo" href="/books/NBK100238#aprt-def.Diagnosis" target="NBK100238">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK100238#aprt-def.Clinical_Characteristics" target="NBK100238">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK100238#aprt-def.Genetically_Related_Allelic_Dis" target="NBK100238">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK100238#aprt-def.Differential_Diagnosis" target="NBK100238">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK100238#aprt-def.Management" target="NBK100238">Management</a> | <a class="medgenPMinfo" href="/books/NBK100238#aprt-def.Genetic_Counseling" target="NBK100238">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK100238#aprt-def.Resources" target="NBK100238">Resources</a> | <a class="medgenPMinfo" href="/books/NBK100238#aprt-def.Molecular_Genetics" target="NBK100238">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK100238#aprt-def.References" target="NBK100238">References</a> | <a class="medgenPMinfo" href="/books/NBK100238#aprt-def.Chapter_Notes" target="NBK100238">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Vidar Orn Edvardsson | Amrik Sahota | Runolfur Palsson <a href="/books/NBK100238" target="NBK100238" title="NCBI Bookshelf: Adenine Phosphoribosyltransferase Deficiency">view full author information</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />APRT deficiency is an autosomal recessive metabolic disorder that can lead to accumulation of the insoluble purine 2,8-dihydroxyadenine (DHA) in the kidney, which results in crystalluria and the formation of urinary stones. Clinical features include renal colic, hematuria, urinary tract infection, dysuria, and, in some cases, renal failure. The age at onset can range from 5 months to late adulthood; however, as many as 50% of APRT-deficient individuals may be asymptomatic (summary by Sahota et al., 2001).
|
||
Two types of APRT deficiency have been described based on the level of residual enzyme activity in in vitro studies of erythrocytes. Type I deficiency is characterized by complete enzyme deficiency in intact cells and in cell lysates, whereas type II deficiency is characterized by complete enzyme deficiency in intact cells, but only a partial deficiency in cell lysates. Type II alleles show reduced affinity for phosphoribosyl pyrophosphate (PRPP) compared to wildtype. In both types, APRT activity is not functional in vivo. Type II deficiency is most common among Japanese. Heterozygotes of either type do not appear to have any clinical or biochemical abnormalities (summary by Sahota et al., 2001). <a target="_blank" href="http://www.omim.org/entry/614723">http://www.omim.org/entry/614723</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also a frequent symptom. Kidney and urinary tract stones can create blockages in the urinary tract, causing pain during urination and difficulty releasing urine.<br /><br />Affected individuals can develop features of this condition anytime from infancy to late adulthood. When the condition appears in infancy, the first sign is usually the presence of tiny grains of reddish-brown material in the baby's diaper caused by the passing of stones. Later, recurrent kidney and urinary tract stones can lead to problems with kidney function beginning as early as mid- to late childhood. Approximately half of individuals with APRT deficiency first experience signs and symptoms of the condition in adulthood. The first features in affected adults are usually kidney stones and related urinary problems. Other signs and symptoms of APRT deficiency caused by kidney and urinary tract stones include fever, urinary tract infection, blood in the urine (hematuria), abdominal cramps, nausea, and vomiting.<br /><br />Without treatment, kidney function can decline, which may lead to end-stage renal disease (ESRD). ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively.<br /><br />The features of this condition and their severity vary greatly among affected individuals, even among members of the same family. It is estimated that 15 to 20 percent of people with APRT deficiency do not have any signs or symptoms of the condition. <a target="_blank" href="https://medlineplus.gov/genetics/condition/adenine-phosphoribosyltransferase-deficiency">https://medlineplus.gov/genetics/condition/adenine-phosphoribosyltransferase-deficiency</a></div></div>
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||
</div>
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||
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||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_7803"><div><strong>Abdominal pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7803</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.">C0000737</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) and perceived to originate in the abdomen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7803">Feature record</a> | <a href="/medgen?term=%22Abdominal%20pain%22%5BClinical%20Features%5D%20OR%207803%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5488"><div><strong>Hematuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5488</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5488">Feature record</a> | <a href="/medgen?term=%22Hematuria%22%5BClinical%20Features%5D%20OR%205488%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18163"><div><strong>Oliguria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18163</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.">C0028961</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Low output of urine, clinically classified as an output below 300-500ml/day.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18163">Feature record</a> | <a href="/medgen?term=%22Oliguria%22%5BClinical%20Features%5D%20OR%2018163%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98227"><div><strong>Nephrolithiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98227</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.">C0392525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of calculi (stones) in the kidneys.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98227">Feature record</a> | <a href="/medgen?term=%22Nephrolithiasis%22%5BClinical%20Features%5D%20OR%2098227%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141536"><div><strong>Urolithiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141536</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.">C0451641</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141536">Feature record</a> | <a href="/medgen?term=%22Urolithiasis%22%5BClinical%20Features%5D%20OR%20141536%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_1814409"><div><strong>2,8-dihydroxyadenine crystalluria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1814409</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.">C5676845</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1814409">Feature record</a> | <a href="/medgen?term=%222%2C8-dihydroxyadenine%20crystalluria%22%5BClinical%20Features%5D%20OR%201814409%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1864093"><div><strong>Elevated urinary 2,8-dihydroxyadenine level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1864093</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.">C5937529</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The amount of 2,8-dihydroxyadenine in the urine, normalized for urine concentration, is above the upper limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1864093">Feature record</a> | <a href="/medgen?term=%22Elevated%20urinary%202%2C8-dihydroxyadenine%20level%22%5BClinical%20Features%5D%20OR%201864093%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65117"><div><strong>Metabolic acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65117</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.">C0220981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65117">Feature record</a> | <a href="/medgen?term=%22Metabolic%20acidosis%22%5BClinical%20Features%5D%20OR%2065117%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_148579"><div><strong>Elevated circulating creatinine concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148579</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.">C0700225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased amount of creatinine in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/148579">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatinine%20concentration%22%5BClinical%20Features%5D%20OR%20148579%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_148579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatinine concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65117" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metabolic acidosis</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_1814409" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">2,8-dihydroxyadenine crystalluria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1864093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated urinary 2,8-dihydroxyadenine level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5488" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hematuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrolithiasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18163" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oliguria</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_141536" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Urolithiasis</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_7803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abdominal pain</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268120[DISCUI]&test_type=Clinical" ref="ncbi_uid=82772">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0268120[DISCUI]&test_type=Research" ref="ncbi_uid=82772">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82772" target="_blank" href="/omim/102600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK100238/" ref="ncbi_uid=82772">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82772" ref="ncbi_uid=82772">V</a></span></span><span class="TLline">Adenine phosphoribosyltransferase deficiency</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/977482" ref="tree=MeSH" title="MedGen record for Inborn disorder of purine metabolism">Inborn disorder of purine metabolism</a></span><ul><li><span class="matched_ds">Adenine phosphoribosyltransferase deficiency</span></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/27770717">Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thorsteinsdottir M,
|
||
Thorsteinsdottir UA,
|
||
Eiriksson FF,
|
||
Runolfsdottir HL,
|
||
Agustsdottir IM,
|
||
Oddsdottir S,
|
||
Sigurdsson BB,
|
||
Hardarson HK,
|
||
Kamble NR,
|
||
Sigurdsson ST,
|
||
Edvardsson VO,
|
||
Palsson R</span><br />
|
||
<span class="medgenPMjournal">J Chromatogr B Analyt Technol Biomed Life Sci</span>
|
||
2016 Nov 15;1036-1037:170-177.
|
||
Epub 2016 Sep 14
|
||
doi: 10.1016/j.jchromb.2016.09.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27770717" target="_blank">27770717</a><a href="/pmc/articles/PMC5445224" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20150536">Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bollée G,
|
||
Dollinger C,
|
||
Boutaud L,
|
||
Guillemot D,
|
||
Bensman A,
|
||
Harambat J,
|
||
Deteix P,
|
||
Daudon M,
|
||
Knebelmann B,
|
||
Ceballos-Picot I</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2010 Apr;21(4):679-88.
|
||
Epub 2010 Feb 11
|
||
doi: 10.1681/ASN.2009080808.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20150536" target="_blank">20150536</a><a href="/pmc/articles/PMC2844298" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11532677">Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Edvardsson V,
|
||
Palsson R,
|
||
Olafsson I,
|
||
Hjaltadottir G,
|
||
Laxdal T</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2001 Sep;38(3):473-80.
|
||
doi: 10.1053/ajkd.2001.26826.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11532677" target="_blank">11532677</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22adenine%20phosphoribosyltransferase%20deficiency%22%5Btiab%3A~0%5D)%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 (5)</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/31880754">Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Runolfsdottir HL,
|
||
Palsson R,
|
||
Agustsdottir IMS,
|
||
Indridason OS,
|
||
Li J,
|
||
Dao M,
|
||
Knebelmann B,
|
||
Milliner DS,
|
||
Edvardsson VO</span><br />
|
||
<span class="medgenPMjournal">Transplantation</span>
|
||
2020 Oct;104(10):2120-2128.
|
||
doi: 10.1097/TP.0000000000003088.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31880754" target="_blank">31880754</a><a href="/pmc/articles/PMC7316615" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29957682">Congenital and acquired diseases related to stone formation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veser J,
|
||
Özsoy M,
|
||
Seitz C</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Urol</span>
|
||
2018 Sep;28(5):414-419.
|
||
doi: 10.1097/MOU.0000000000000522.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29957682" target="_blank">29957682</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27838384">Genetic defects underlying renal stone disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rumsby G</span><br />
|
||
<span class="medgenPMjournal">Int J Surg</span>
|
||
2016 Dec;36(Pt D):590-595.
|
||
Epub 2016 Nov 10
|
||
doi: 10.1016/j.ijsu.2016.11.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27838384" target="_blank">27838384</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26724837">Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Runolfsdottir HL,
|
||
Palsson R,
|
||
Agustsdottir IM,
|
||
Indridason OS,
|
||
Edvardsson VO</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2016 Mar;67(3):431-8.
|
||
Epub 2015 Dec 25
|
||
doi: 10.1053/j.ajkd.2015.10.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26724837" target="_blank">26724837</a><a href="/pmc/articles/PMC4819988" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6297375">Genetic defects in human purine and pyrimidine metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boss GR,
|
||
Seegmiller JE</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Genet</span>
|
||
1982;16:297-328.
|
||
doi: 10.1146/annurev.ge.16.120182.001501.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6297375" target="_blank">6297375</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adenine%20phosphoribosyltransferase%20deficiency%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 (23)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34044400">An Unusual Course of a 2,8-Dihydroxyadeninuria Crystalline Nephropathy Secondary to Adenine Phosphoribosyltransferase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nourié N,
|
||
Nassereddine H,
|
||
Azar H</span><br />
|
||
<span class="medgenPMjournal">Nephron</span>
|
||
2021;145(5):503-507.
|
||
Epub 2021 May 27
|
||
doi: 10.1159/000516281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34044400" target="_blank">34044400</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29957682">Congenital and acquired diseases related to stone formation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veser J,
|
||
Özsoy M,
|
||
Seitz C</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Urol</span>
|
||
2018 Sep;28(5):414-419.
|
||
doi: 10.1097/MOU.0000000000000522.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29957682" target="_blank">29957682</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26806004">Advances in Urine Microscopy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Becker GJ,
|
||
Garigali G,
|
||
Fogazzi GB</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2016 Jun;67(6):954-64.
|
||
Epub 2016 Jan 22
|
||
doi: 10.1053/j.ajkd.2015.11.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26806004" target="_blank">26806004</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24986359">Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valaperta R,
|
||
Rizzo V,
|
||
Lombardi F,
|
||
Verdelli C,
|
||
Piccoli M,
|
||
Ghiroldi A,
|
||
Creo P,
|
||
Colombo A,
|
||
Valisi M,
|
||
Margiotta E,
|
||
Panella R,
|
||
Costa E</span><br />
|
||
<span class="medgenPMjournal">BMC Nephrol</span>
|
||
2014 Jul 1;15:102.
|
||
doi: 10.1186/1471-2369-15-102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24986359" target="_blank">24986359</a><a href="/pmc/articles/PMC4094445" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22700886">Adenine phosphoribosyltransferase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bollée G,
|
||
Harambat J,
|
||
Bensman A,
|
||
Knebelmann B,
|
||
Daudon M,
|
||
Ceballos-Picot I</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2012 Sep;7(9):1521-7.
|
||
Epub 2012 Jun 14
|
||
doi: 10.2215/CJN.02320312.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22700886" target="_blank">22700886</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adenine%20phosphoribosyltransferase%20deficiency%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 (98)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34044400">An Unusual Course of a 2,8-Dihydroxyadeninuria Crystalline Nephropathy Secondary to Adenine Phosphoribosyltransferase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nourié N,
|
||
Nassereddine H,
|
||
Azar H</span><br />
|
||
<span class="medgenPMjournal">Nephron</span>
|
||
2021;145(5):503-507.
|
||
Epub 2021 May 27
|
||
doi: 10.1159/000516281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34044400" target="_blank">34044400</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31880754">Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Runolfsdottir HL,
|
||
Palsson R,
|
||
Agustsdottir IMS,
|
||
Indridason OS,
|
||
Li J,
|
||
Dao M,
|
||
Knebelmann B,
|
||
Milliner DS,
|
||
Edvardsson VO</span><br />
|
||
<span class="medgenPMjournal">Transplantation</span>
|
||
2020 Oct;104(10):2120-2128.
|
||
doi: 10.1097/TP.0000000000003088.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31880754" target="_blank">31880754</a><a href="/pmc/articles/PMC7316615" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31249241">Adenine phosphoribosyltransferase deficiency and 2, 8-dihydroxyadenine renal stones: A preventable cause of pediatric renal stones and kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parikh MD,
|
||
Konnur A,
|
||
Gang S</span><br />
|
||
<span class="medgenPMjournal">Saudi J Kidney Dis Transpl</span>
|
||
2019 May-Jun;30(3):723-725.
|
||
doi: 10.4103/1319-2442.261357.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31249241" target="_blank">31249241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30381520">Renal stones in two children with two rare etiologies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar G,
|
||
AlAni RR</span><br />
|
||
<span class="medgenPMjournal">Saudi J Kidney Dis Transpl</span>
|
||
2018 Sep-Oct;29(5):1203-1206.
|
||
doi: 10.4103/1319-2442.243955.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30381520" target="_blank">30381520</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22700886">Adenine phosphoribosyltransferase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bollée G,
|
||
Harambat J,
|
||
Bensman A,
|
||
Knebelmann B,
|
||
Daudon M,
|
||
Ceballos-Picot I</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2012 Sep;7(9):1521-7.
|
||
Epub 2012 Jun 14
|
||
doi: 10.2215/CJN.02320312.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22700886" target="_blank">22700886</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adenine%20phosphoribosyltransferase%20deficiency%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 (38)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39497582">A narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Assadi F,
|
||
Faghihi T</span><br />
|
||
<span class="medgenPMjournal">Nephrology (Carlton)</span>
|
||
2024 Dec;29(12):781-790.
|
||
Epub 2024 Nov 5
|
||
doi: 10.1111/nep.14373.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39497582" target="_blank">39497582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34044400">An Unusual Course of a 2,8-Dihydroxyadeninuria Crystalline Nephropathy Secondary to Adenine Phosphoribosyltransferase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nourié N,
|
||
Nassereddine H,
|
||
Azar H</span><br />
|
||
<span class="medgenPMjournal">Nephron</span>
|
||
2021;145(5):503-507.
|
||
Epub 2021 May 27
|
||
doi: 10.1159/000516281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34044400" target="_blank">34044400</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26724837">Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Runolfsdottir HL,
|
||
Palsson R,
|
||
Agustsdottir IM,
|
||
Indridason OS,
|
||
Edvardsson VO</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2016 Mar;67(3):431-8.
|
||
Epub 2015 Dec 25
|
||
doi: 10.1053/j.ajkd.2015.10.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26724837" target="_blank">26724837</a><a href="/pmc/articles/PMC4819988" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22700886">Adenine phosphoribosyltransferase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bollée G,
|
||
Harambat J,
|
||
Bensman A,
|
||
Knebelmann B,
|
||
Daudon M,
|
||
Ceballos-Picot I</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2012 Sep;7(9):1521-7.
|
||
Epub 2012 Jun 14
|
||
doi: 10.2215/CJN.02320312.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22700886" target="_blank">22700886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8455250">A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takeuchi H,
|
||
Kaneko Y,
|
||
Fujita J,
|
||
Yoshida O</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
1993 Apr;149(4):824-6.
|
||
doi: 10.1016/s0022-5347(17)36222-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8455250" target="_blank">8455250</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adenine%20phosphoribosyltransferase%20deficiency%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 (16)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28566603">Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nanmoku K,
|
||
Kurosawa A,
|
||
Shinzato T,
|
||
Shimizu T,
|
||
Kimura T,
|
||
Yagisawa T</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2017;56(11):1387-1391.
|
||
Epub 2017 Jun 1
|
||
doi: 10.2169/internalmedicine.56.8142.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28566603" target="_blank">28566603</a><a href="/pmc/articles/PMC5498204" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26724837">Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Runolfsdottir HL,
|
||
Palsson R,
|
||
Agustsdottir IM,
|
||
Indridason OS,
|
||
Edvardsson VO</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2016 Mar;67(3):431-8.
|
||
Epub 2015 Dec 25
|
||
doi: 10.1053/j.ajkd.2015.10.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26724837" target="_blank">26724837</a><a href="/pmc/articles/PMC4819988" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22700886">Adenine phosphoribosyltransferase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bollée G,
|
||
Harambat J,
|
||
Bensman A,
|
||
Knebelmann B,
|
||
Daudon M,
|
||
Ceballos-Picot I</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2012 Sep;7(9):1521-7.
|
||
Epub 2012 Jun 14
|
||
doi: 10.2215/CJN.02320312.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22700886" target="_blank">22700886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16374038">Expression profiling of crystal-induced injury in human kidney epithelial cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liang L,
|
||
Chen J,
|
||
Vittal R,
|
||
Selvanayagam ZE,
|
||
McAteer JA,
|
||
Deng L,
|
||
Tischfield J,
|
||
Chin KV,
|
||
Sahota A</span><br />
|
||
<span class="medgenPMjournal">Nephron Physiol</span>
|
||
2006;103(1):p53-62.
|
||
Epub 2005 Dec 21
|
||
doi: 10.1159/000090503.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16374038" target="_blank">16374038</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9067291">High frequency in vivo loss of heterozygosity is primarily a consequence of mitotic recombination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta PK,
|
||
Sahota A,
|
||
Boyadjiev SA,
|
||
Bye S,
|
||
Shao C,
|
||
O'Neill JP,
|
||
Hunter TC,
|
||
Albertini RJ,
|
||
Stambrook PJ,
|
||
Tischfield JA</span><br />
|
||
<span class="medgenPMjournal">Cancer Res</span>
|
||
1997 Mar 15;57(6):1188-93.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9067291" target="_blank">9067291</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adenine%20phosphoribosyltransferase%20deficiency%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 (20)</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/35635787">Adenine phosphoribosyl transferase deficiency leads to renal allograft dysfunction in kidney transplant recipients: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rashid I,
|
||
Verma A,
|
||
Tiwari P,
|
||
D'Cruz S</span><br />
|
||
<span class="medgenPMjournal">J Bras Nefrol</span>
|
||
2022 Jul-Sep;44(3):403-416.
|
||
doi: 10.1590/2175-8239-JBN-2021-0283en.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35635787" target="_blank">35635787</a><a href="/pmc/articles/PMC9518620" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adenine%20phosphoribosyltransferase%20deficiency%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 (1)</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">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<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">
|
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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=C0268120%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268120%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268120%5bDISCUI%5d&test_type=Research" target="_blank">Research (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268120%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268120%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (24)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268120%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268120%5bDISCUI%5d" target="_blank">See all (30)</a></total></li>
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||
</ul></div>
|
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</div>
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||
|
||
<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=614723" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=976" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Adenine%20phosphoribosyltransferase%20deficiency" 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=(%22adenine%20phosphoribosyltransferase%20deficiency%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=102600" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=353[geneid]" target="_blank">View APRT variations in ClinVar</a></li><li><a href="/nuccore/190341057" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=614723" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/adenine_phosphoribosyltransferase_deficiency" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Adenine%20phosphoribosyltransferase%20deficiency" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/adenine-phosphoribosyltransferase-deficiency" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/546/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
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|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/22934314" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Adenine%20phosphoribosyltransferase%20deficiency" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Adenine%20phosphoribosyltransferase%20deficiency%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
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|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=82772" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=82772" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0268120[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0268120[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0268120[DISCUI]&test_type=Research" ref="log$=recordlinks">GTR(Research)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Research tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=82772" ref="log$=recordlinks">MeSH</a>
|
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=82772" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=82772" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=82772" ref="log$=recordlinks">PMC Articles</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
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</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=82772" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=82772" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=82772" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=82772" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
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<h3>Recent activity</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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