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<meta name="keywords" content="2-oxoglutarate glyoxylate carboligase deficiency, C0268164, agxt, agxt primary hyperoxaluria, alanine-glycoxylate aminotransferase deficiency, alanine-glyoxylate aminotransferase deficiency, disease or syndrome, glycolic aciduria, hepatic agt deficiency, hp1, hyperoxaluria, primary, type 1, hyperoxaluria, primary, type i, oxalosis 1, oxalosis i, oxalosis type i, peroxisomal alanine glyoxylate aminotransferase deficiency, peroxisomal alanine-glyoxylate aminotransferase deficiency, peroxisomal alanine:glyoxylate aminotransferase deficiency, ph1, primary hyperoxaluria caused by mutation in agxt, primary hyperoxaluria type 1, primary hyperoxaluria type i, primary hyperoxaluria, type i, serine pyruvate aminotransferase deficiency, serine:pyruvate aminotransferase deficiency, 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="Primary hyperoxaluria type 1 (PH1) is caused by deficiency of the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is reduced or absent, glyoxylate is converted to oxalate, which cannot be metabolized and must be excreted by the kidneys. Insoluble calcium oxalate crystals form due to high urinary oxalate concentration. Urinary crystals aggregate, leading to nephrolithiasis (i.e., calcium oxalate kidney stones) in the renal pelvis / urinary tract; often the crystals deposit in kidney parenchyma (nephrocalcinosis). The age at presentation of PH1 ranges from infancy (age <12 months) in 10% of individuals, childhood/adolescence (age 1-17 years) in 70%, and adulthood (age =18 years) in 20%. The natural history of untreated PH1 is (1) progressive decline in kidney function due to complications of nephrolithiasis (e.g., urinary obstruction, infection) and nephrocalcinosis, and (2) in persons with advanced chronic kidney disease (CKD), high plasma oxalate concentrations result in other organ and tissue damage from calcium oxalate deposition (i.e., "oxalosis"), most commonly in the bones, heart, and retina. In the absence of treatment, progression of oxalosis results in death from kidney failure and/or other organ involvement." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=75658
|
||
ConceptID=C0268164
|
||
-->
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1283/bin/ph1-Image001.gif" src-large="/books/NBK1283/bin/ph1-Image001.jpg" /></a><br /><a href="/books/NBK1283/figure/ph1.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Primary hyperoxaluria, type I<span class="h1sub">(HP1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75658</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.">C0268164</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>GLYCOLIC ACIDURIA; HEPATIC AGT DEFICIENCY; HP1; Oxalosis 1; OXALOSIS I; Peroxisomal alanine glyoxylate aminotransferase deficiency; Primary hyperoxaluria type 1; Serine pyruvate aminotransferase deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Primary hyperoxaluria, type I (65520001); Glycolic aciduria (65520001); Alanine-glyoxylate aminotransferase deficiency (65520001); 2-Oxoglutarate glyoxylate carboligase deficiency (65520001); Oxalosis type I (65520001); Primary hyperoxaluria type I (65520001); Alanine-glycoxylate aminotransferase deficiency (65520001)</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="AGXT - ID: 189 - NCBI Gene" href="/gene/189" class="medgenPMinfo">AGXT</a> (2q37.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009823" target="_blank">MONDO:0009823</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/259900" target="_blank">259900</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=93598">ORPHA93598</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>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1283" target="_blank">Primary Hyperoxaluria Type 1</a></div><div>Primary hyperoxaluria type 1 (PH1) is caused by deficiency of the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is reduced or absent, glyoxylate is converted to oxalate, which cannot be metabolized and must be excreted by the kidneys. Insoluble calcium oxalate crystals form due to high urinary oxalate concentration. Urinary crystals aggregate, leading to nephrolithiasis (i.e., calcium oxalate kidney stones) in the renal pelvis / urinary tract; often the crystals deposit in kidney parenchyma (nephrocalcinosis). The age at presentation of PH1 ranges from infancy (age <12 months) in 10% of individuals, childhood/adolescence (age 1-17 years) in 70%, and adulthood (age ≥18 years) in 20%. The natural history of untreated PH1 is (1) progressive decline in kidney function due to complications of nephrolithiasis (e.g., urinary obstruction, infection) and nephrocalcinosis, and (2) in persons with advanced chronic kidney disease (CKD), high plasma oxalate concentrations result in other organ and tissue damage from calcium oxalate deposition (i.e., "oxalosis"), most commonly in the bones, heart, and retina. In the absence of treatment, progression of oxalosis results in death from kidney failure and/or other organ involvement. [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/NBK1283#ph1.Summary" target="NBK1283">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1283#ph1.Diagnosis" target="NBK1283">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1283#ph1.Clinical_Characteristics" target="NBK1283">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1283#ph1.Genetically_Related_Allelic_Disorder" target="NBK1283">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1283#ph1.Differential_Diagnosis" target="NBK1283">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1283#ph1.Management" target="NBK1283">Management</a> | <a class="medgenPMinfo" href="/books/NBK1283#ph1.Genetic_Counseling" target="NBK1283">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1283#ph1.Resources" target="NBK1283">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1283#ph1.Molecular_Genetics" target="NBK1283">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1283#ph1.Chapter_Notes" target="NBK1283">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1283#ph1.References" target="NBK1283">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Dawn S Milliner | Peter C Harris | David J Sas<i>, et. al.</i> <a href="/books/NBK1283" target="NBK1283" title="NCBI Bookshelf: Primary Hyperoxaluria Type 1">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<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 />Primary hyperoxaluria type I is an autosomal recessive disorder characterized by an accumulation of calcium oxalate in various bodily tissues, especially the kidney, resulting in renal failure. Affected individuals have decreased or absent AGXT activity and a failure to transaminate glyoxylate, which causes the accumulated glyoxylate to be oxidized to oxalate. This overproduction of oxalate results in the accumulation of nonsoluble calcium oxalate in various body tissues, with pathologic sequelae (Takada et al., 1990; Danpure et al., 1989; Williams et al., 2009)
|
||
Genetic Heterogeneity of Primary Hyperoxaluria
|
||
Type II primary hyperoxaluria (HP2; 260000) is caused by mutation in the glyoxylate reductase/hydroxypyruvate reductase gene (GRHPR; 604296) on chromosome 9. Type III primary hyperoxaluria (HP3; 613616) is caused by mutation in the mitochondrial dihydrodipicolinate synthase-like gene (DHDPSL; 613597) on chromosome 10q24. <a target="_blank" href="http://www.omim.org/entry/259900">http://www.omim.org/entry/259900</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.<br /><br />Primary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.<br /><br />There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear. <a target="_blank" href="https://medlineplus.gov/genetics/condition/primary-hyperoxaluria">https://medlineplus.gov/genetics/condition/primary-hyperoxaluria</a></div></div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_6546"><div><strong>Gangrene</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6546</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.">C0017086</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/6546">Feature record</a> | <a href="/medgen?term=%22Gangrene%22%5BClinical%20Features%5D%20OR%206546%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_57489"><div><strong>Bone pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57489</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/57489">Feature record</a> | <a href="/medgen?term=%22Bone%20pain%22%5BClinical%20Features%5D%20OR%2057489%5Buid%5D">Search on this feature</a></div></div>
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<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>
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<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>
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<div class="divPopper rprt" id="clin_43782"><div><strong>Hyperoxaluria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43782</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.">C0020500</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.\n\nPrimary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.\n\nThere are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/43782">Feature record</a> | <a href="/medgen?term=%22Hyperoxaluria%22%5BClinical%20Features%5D%20OR%2043782%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_10222"><div><strong>Nephrocalcinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10222</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.">C0027709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/10222">Feature record</a> | <a href="/medgen?term=%22Nephrocalcinosis%22%5BClinical%20Features%5D%20OR%2010222%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_332529"><div><strong>Renal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332529</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1565489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.</div>
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<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>
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<div class="divPopper rprt" id="clin_318935"><div><strong>Nephrolithiasis, calcium oxalate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318935</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.">C1833683</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria (220100) and primary hyperoxaluria (see 259900) that have nephrolithiasis as a major feature have advanced understanding of the metabolic and physiologic processes of stone formation in general, they have not addressed the etiology of calcium oxalate stone formation, responsible for approximately 75% of urolithiasis cases in humans. Men are affected twice as often as women, but children show no such gender bias. The recurrence rate is also high. In populations of European ancestry, 5 to 10% of adults experience the painful precipitation of calcium oxalate in their urinary tracts. Thorleifsson et al. (2009) noted that between 35 and 65% of hypercalciuric stone formers and up to 70% of subjects with hypercalciuria have relatives with nephrolithiasis, and twin studies have estimated the heritability of kidney stones to be 56%. Genetic Heterogeneity of Calcium Oxalate Nephrolithiasis See also CAON2 (620374), caused by mutation in the OXGR1 gene (606922) on chromosome 13q32.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/318935">Feature record</a> | <a href="/medgen?term=%22Nephrolithiasis%2C%20calcium%20oxalate%22%5BClinical%20Features%5D%20OR%20318935%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_1863530"><div><strong>Elevated urinary glycolic acid level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863530</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.">C5937209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">The amount of glycolic acid in the urine, normalized for urine concentration, is above the upper limit of normal.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1863530">Feature record</a> | <a href="/medgen?term=%22Elevated%20urinary%20glycolic%20acid%20level%22%5BClinical%20Features%5D%20OR%201863530%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1864054"><div><strong>Elevated urinary glyoxylic acid level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1864054</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.">C5937438</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">The amount of glyoxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. The conjugate base of glyoxylic acid is known as glyoxylate.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1864054">Feature record</a> | <a href="/medgen?term=%22Elevated%20urinary%20glyoxylic%20acid%20level%22%5BClinical%20Features%5D%20OR%201864054%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_13956"><div><strong>Atrioventricular block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13956</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.">C0004245</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/13956">Feature record</a> | <a href="/medgen?term=%22Atrioventricular%20block%22%5BClinical%20Features%5D%20OR%2013956%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7115"><div><strong>Intermittent claudication</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7115</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.">C0021775</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/7115">Feature record</a> | <a href="/medgen?term=%22Intermittent%20claudication%22%5BClinical%20Features%5D%20OR%207115%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20474"><div><strong>Raynaud phenomenon</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20474</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.">C0034735</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/20474">Feature record</a> | <a href="/medgen?term=%22Raynaud%20phenomenon%22%5BClinical%20Features%5D%20OR%2020474%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_78117"><div><strong>Arterial occlusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78117</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.">C0264995</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
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||
<div class="spaceAbove">Blockage of blood flow through an artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78117">Feature record</a> | <a href="/medgen?term=%22Arterial%20occlusion%22%5BClinical%20Features%5D%20OR%2078117%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870815"><div><strong>Peripheral arterial stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870815</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.">C4025272</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870815">Feature record</a> | <a href="/medgen?term=%22Peripheral%20arterial%20stenosis%22%5BClinical%20Features%5D%20OR%20870815%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18386"><div><strong>Peripheral neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18386</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.">C0031117</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18386">Feature record</a> | <a href="/medgen?term=%22Peripheral%20neuropathy%22%5BClinical%20Features%5D%20OR%2018386%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_472879"><div><strong>Calcinosis cutis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>472879</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.">C0006664</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Deposition of calcium in the skin.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/472879">Feature record</a> | <a href="/medgen?term=%22Calcinosis%20cutis%22%5BClinical%20Features%5D%20OR%20472879%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42095"><div><strong>Pathologic fracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42095</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.">C0016663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
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||
<div class="spaceAbove">A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/42095">Feature record</a> | <a href="/medgen?term=%22Pathologic%20fracture%22%5BClinical%20Features%5D%20OR%2042095%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_10502"><div><strong>Increased bone mineral density</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10502</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.">C0029464</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10502">Feature record</a> | <a href="/medgen?term=%22Increased%20bone%20mineral%20density%22%5BClinical%20Features%5D%20OR%2010502%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8273"><div><strong>Dehydration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8273</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.">C0011175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8273">Feature record</a> | <a href="/medgen?term=%22Dehydration%22%5BClinical%20Features%5D%20OR%208273%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_1841836"><div><strong>Reduced hepatic alanine-glyoxylate aminotransferase activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841836</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.">C5826829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Activity of alanine-glyoxylate aminotransferase in the liver below the lower limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841836">Feature record</a> | <a href="/medgen?term=%22Reduced%20hepatic%20alanine-glyoxylate%20aminotransferase%20activity%22%5BClinical%20Features%5D%20OR%201841836%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65138"><div><strong>Acrocyanosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65138</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.">C0221347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bluish discoloration of the skin of the hands or feet.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65138">Feature record</a> | <a href="/medgen?term=%22Acrocyanosis%22%5BClinical%20Features%5D%20OR%2065138%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78093"><div><strong>Cutis marmorata</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78093</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.">C0263401</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78093">Feature record</a> | <a href="/medgen?term=%22Cutis%20marmorata%22%5BClinical%20Features%5D%20OR%2078093%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18180"><div><strong>Optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18180</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.">C0029124</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18180">Feature record</a> | <a href="/medgen?term=%22Optic%20atrophy%22%5BClinical%20Features%5D%20OR%2018180%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_154726"><div><strong>Choroidal neovascularization</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154726</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.">C0600518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154726">Feature record</a> | <a href="/medgen?term=%22Choroidal%20neovascularization%22%5BClinical%20Features%5D%20OR%20154726%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854546"><div><strong>Optic neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854546</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.">C3887709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disorder of the optic nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854546">Feature record</a> | <a href="/medgen?term=%22Optic%20neuropathy%22%5BClinical%20Features%5D%20OR%20854546%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892979"><div><strong>Retinal crystals</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892979</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.">C4072992</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Crystalline deposits in the retina.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892979">Feature record</a> | <a href="/medgen?term=%22Retinal%20crystals%22%5BClinical%20Features%5D%20OR%20892979%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_8273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dehydration</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1841836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced hepatic alanine-glyoxylate aminotransferase activity</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78117" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arterial occlusion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrioventricular block</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7115" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intermittent claudication</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870815" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral arterial stenosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20474" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Raynaud phenomenon</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_154726" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choroidal neovascularization</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854546" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic neuropathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal 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></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_1863530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated urinary glycolic acid level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1864054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated urinary glyoxylic acid 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_43782" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperoxaluria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrocalcinosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_318935" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrolithiasis, calcium oxalate</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></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrocyanosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis marmorata</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_472879" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Calcinosis cutis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10502" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased bone mineral density</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pathologic fracture</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_18386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral neuropathy</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57489" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone pain</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6546" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gangrene</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><li><a href="#tabORDO">Orphanet</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=CN305373[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=986289">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=986289" ref="ncbi_uid=986289">V</a></span></span><span class="TLline"><a href="/medgen/986289" ref="tree=GTR&ncbi_uid=986289&link_uid=986289" title="View MedGen record for 'Alanine glyoxylate aminotransferase deficiency'">Alanine glyoxylate aminotransferase deficiency</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268164[DISCUI]&test_type=Clinical" ref="ncbi_uid=75658">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0268164[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=75658">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75658" target="_blank" href="/omim/259900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1283/" ref="ncbi_uid=75658">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75658" ref="ncbi_uid=75658">V</a></span></span><span class="TLline">Primary hyperoxaluria, type I</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/986289" ref="tree=MeSH" title="MedGen record for Alanine glyoxylate aminotransferase deficiency">Alanine glyoxylate aminotransferase deficiency</a></span><ul><li><span class="matched_ds">Primary hyperoxaluria, type I</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=12431&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Primary hyperoxaluria, type I</span> in Orphanet.</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/30575740">CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zabaleta N,
|
||
Barberia M,
|
||
Martin-Higueras C,
|
||
Zapata-Linares N,
|
||
Betancor I,
|
||
Rodriguez S,
|
||
Martinez-Turrillas R,
|
||
Torella L,
|
||
Vales A,
|
||
Olagüe C,
|
||
Vilas-Zornoza A,
|
||
Castro-Labrador L,
|
||
Lara-Astiaso D,
|
||
Prosper F,
|
||
Salido E,
|
||
Gonzalez-Aseguinolaza G,
|
||
Rodriguez-Madoz JR</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2018 Dec 21;9(1):5454.
|
||
doi: 10.1038/s41467-018-07827-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30575740" target="_blank">30575740</a><a href="/pmc/articles/PMC6303323" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27900983">Primary hyperoxaluria type I importance of pre-transplant genetic screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weerakkody RM</span><br />
|
||
<span class="medgenPMjournal">Saudi J Kidney Dis Transpl</span>
|
||
2016 Nov-Dec;27(6):1283-1284.
|
||
doi: 10.4103/1319-2442.194694.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27900983" target="_blank">27900983</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2874347">Primary hyperoxaluria type I: oxalate and glycolate unsuitable for prenatal diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leumann E,
|
||
Matasović A,
|
||
Niederwieser A</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1986 Aug 9;2(8502):340.
|
||
doi: 10.1016/s0140-6736(86)90026-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2874347" target="_blank">2874347</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22primary%20hyperoxaluria%2C%20type%20i%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 (10)</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/39641329">Effect of the allelic background on the phenotype of primary hyperoxaluria type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mandrile G,
|
||
Cellini B,
|
||
Ferraro PM</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2025 Mar 1;34(2):177-183.
|
||
Epub 2024 Dec 6
|
||
doi: 10.1097/MNH.0000000000001057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39641329" target="_blank">39641329</a><a href="/pmc/articles/PMC11789592" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36472654">Three Tesla magnetic resonance imaging detects oxalate osteopathy in patients with primary hyperoxaluria type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merz LM,
|
||
Born M,
|
||
Kukuk G,
|
||
Sprinkart AM,
|
||
Becker I,
|
||
Martin-Higueras C,
|
||
Hoppe B</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2023 Jul;38(7):2083-2092.
|
||
Epub 2022 Dec 6
|
||
doi: 10.1007/s00467-022-05836-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36472654" target="_blank">36472654</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33721035">Clinical analysis of 13 children with primary hyperoxaluria type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin JA,
|
||
Liao X,
|
||
Wu W,
|
||
Xiao L,
|
||
Liu L,
|
||
Qiu J</span><br />
|
||
<span class="medgenPMjournal">Urolithiasis</span>
|
||
2021 Oct;49(5):425-431.
|
||
Epub 2021 Mar 15
|
||
doi: 10.1007/s00240-021-01249-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33721035" target="_blank">33721035</a><a href="/pmc/articles/PMC8416882" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32274573">Plasma oxalate levels in primary hyperoxaluria type I show significant intra-individual variation and do not correlate with kidney function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hillebrand P,
|
||
Hoppe B</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2020 Jul;35(7):1227-1233.
|
||
Epub 2020 Apr 9
|
||
doi: 10.1007/s00467-020-04531-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32274573" target="_blank">32274573</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29071511">Folding Defects Leading to Primary Hyperoxaluria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oppici E,
|
||
Dindo M,
|
||
Conter C,
|
||
Borri Voltattorni C,
|
||
Cellini B</span><br />
|
||
<span class="medgenPMjournal">Handb Exp Pharmacol</span>
|
||
2018;245:313-343.
|
||
doi: 10.1007/164_2017_59.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29071511" target="_blank">29071511</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20hyperoxaluria%2C%20type%20I%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 (24)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23551880">Stroke in primary hyperoxaluria type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rao NM,
|
||
Yallapragada A,
|
||
Winden KD,
|
||
Saver J,
|
||
Liebeskind DS</span><br />
|
||
<span class="medgenPMjournal">J Neuroimaging</span>
|
||
2014 Jul-Aug;24(4):411-3.
|
||
Epub 2013 Apr 2
|
||
doi: 10.1111/jon.12020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23551880" target="_blank">23551880</a><a href="/pmc/articles/PMC4156598" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22688746">An update on primary hyperoxaluria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoppe B</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2012 Jun 12;8(8):467-75.
|
||
doi: 10.1038/nrneph.2012.113.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22688746" target="_blank">22688746</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15361574">SIR 2004 film panel case: Primary hyperoxaluria type I mimicking arterial vasculitis--a lethal disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parr CJ,
|
||
Miller FJ,
|
||
Gregory MC,
|
||
Yoon HC</span><br />
|
||
<span class="medgenPMjournal">J Vasc Interv Radiol</span>
|
||
2004 Sep;15(9):1017-20.
|
||
doi: 10.1097/01.RVI.0000135866.37203.50.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15361574" target="_blank">15361574</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11453821">Off-center fold: necrotizing livedo reticularis. Diagnosis: primary hyperoxaluria type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Reilly MA,
|
||
Meadows KP,
|
||
Egan CA</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
2001 Jul;137(7):957-62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11453821" target="_blank">11453821</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2189732">Primary hyperoxaluria type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Latta K,
|
||
Brodehl J</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1990 May;149(8):518-22.
|
||
doi: 10.1007/BF01957682.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2189732" target="_blank">2189732</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20hyperoxaluria%2C%20type%20I%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 (47)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39641329">Effect of the allelic background on the phenotype of primary hyperoxaluria type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mandrile G,
|
||
Cellini B,
|
||
Ferraro PM</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2025 Mar 1;34(2):177-183.
|
||
Epub 2024 Dec 6
|
||
doi: 10.1097/MNH.0000000000001057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39641329" target="_blank">39641329</a><a href="/pmc/articles/PMC11789592" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32274573">Plasma oxalate levels in primary hyperoxaluria type I show significant intra-individual variation and do not correlate with kidney function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hillebrand P,
|
||
Hoppe B</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2020 Jul;35(7):1227-1233.
|
||
Epub 2020 Apr 9
|
||
doi: 10.1007/s00467-020-04531-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32274573" target="_blank">32274573</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30430197">Molecular basis of primary hyperoxaluria: clues to innovative treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dindo M,
|
||
Conter C,
|
||
Oppici E,
|
||
Ceccarelli V,
|
||
Marinucci L,
|
||
Cellini B</span><br />
|
||
<span class="medgenPMjournal">Urolithiasis</span>
|
||
2019 Feb;47(1):67-78.
|
||
Epub 2018 Nov 14
|
||
doi: 10.1007/s00240-018-1089-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30430197" target="_blank">30430197</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29071511">Folding Defects Leading to Primary Hyperoxaluria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oppici E,
|
||
Dindo M,
|
||
Conter C,
|
||
Borri Voltattorni C,
|
||
Cellini B</span><br />
|
||
<span class="medgenPMjournal">Handb Exp Pharmacol</span>
|
||
2018;245:313-343.
|
||
doi: 10.1007/164_2017_59.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29071511" target="_blank">29071511</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2189732">Primary hyperoxaluria type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Latta K,
|
||
Brodehl J</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1990 May;149(8):518-22.
|
||
doi: 10.1007/BF01957682.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2189732" target="_blank">2189732</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20hyperoxaluria%2C%20type%20I%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 (22)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/15361574">SIR 2004 film panel case: Primary hyperoxaluria type I mimicking arterial vasculitis--a lethal disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parr CJ,
|
||
Miller FJ,
|
||
Gregory MC,
|
||
Yoon HC</span><br />
|
||
<span class="medgenPMjournal">J Vasc Interv Radiol</span>
|
||
2004 Sep;15(9):1017-20.
|
||
doi: 10.1097/01.RVI.0000135866.37203.50.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15361574" target="_blank">15361574</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15347492">Persistent cutaneous manifestations of hyperoxaluria after combined hepatorenal transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rubenstein MC,
|
||
Martinelli PT,
|
||
Bayer-Garner IB,
|
||
Klebuc MJ,
|
||
Curry JL,
|
||
Hsu S</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2004 Jul 15;10(1):10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15347492" target="_blank">15347492</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11453821">Off-center fold: necrotizing livedo reticularis. Diagnosis: primary hyperoxaluria type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Reilly MA,
|
||
Meadows KP,
|
||
Egan CA</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
2001 Jul;137(7):957-62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11453821" target="_blank">11453821</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2189732">Primary hyperoxaluria type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Latta K,
|
||
Brodehl J</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1990 May;149(8):518-22.
|
||
doi: 10.1007/BF01957682.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2189732" target="_blank">2189732</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3126353">Primary hyperoxaluria type I: ultrastructural observations in liver biopsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iancu TC,
|
||
Danpure CJ</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1987;10(4):330-8.
|
||
doi: 10.1007/BF01799975.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3126353" target="_blank">3126353</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20hyperoxaluria%2C%20type%20I%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 (28)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39641329">Effect of the allelic background on the phenotype of primary hyperoxaluria type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mandrile G,
|
||
Cellini B,
|
||
Ferraro PM</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2025 Mar 1;34(2):177-183.
|
||
Epub 2024 Dec 6
|
||
doi: 10.1097/MNH.0000000000001057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39641329" target="_blank">39641329</a><a href="/pmc/articles/PMC11789592" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36202824">Chronic liver disease and hepatic calcium-oxalate deposition in patients with primary hyperoxaluria type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Recker P,
|
||
Beck BB,
|
||
Sikora P,
|
||
Göbel H,
|
||
Kemper MJ,
|
||
Nazco A,
|
||
Martin-Higueras C,
|
||
Hoppe B</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Oct 6;12(1):16725.
|
||
doi: 10.1038/s41598-022-19584-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36202824" target="_blank">36202824</a><a href="/pmc/articles/PMC9537520" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30276532">Skin microvascular dysfunction as an early cardiovascular marker in primary hyperoxaluria type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bruel A,
|
||
Bacchetta J,
|
||
Ginhoux T,
|
||
Rodier-Bonifas C,
|
||
Sellier-Leclerc AL,
|
||
Fromy B,
|
||
Cochat P,
|
||
Sigaudo-Roussel D,
|
||
Dubourg L</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2019 Feb;34(2):319-327.
|
||
Epub 2018 Oct 1
|
||
doi: 10.1007/s00467-018-4081-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30276532" target="_blank">30276532</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25620715">Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oppici E,
|
||
Montioli R,
|
||
Cellini B</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
2015 Sep;1854(9):1212-9.
|
||
Epub 2015 Jan 22
|
||
doi: 10.1016/j.bbapap.2014.12.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25620715" target="_blank">25620715</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3126353">Primary hyperoxaluria type I: ultrastructural observations in liver biopsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iancu TC,
|
||
Danpure CJ</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1987;10(4):330-8.
|
||
doi: 10.1007/BF01799975.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3126353" target="_blank">3126353</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20hyperoxaluria%2C%20type%20I%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 (22)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0268164%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268164%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (38)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268164%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268164%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268164%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268164%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268164%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (62)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268164%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (18)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268164%5bDISCUI%5d" target="_blank">See all (71)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=259900" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=93598" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Primary%20hyperoxaluria,%20type%20I" 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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22primary%20hyperoxaluria%2C%20type%20i%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Primary%20hyperoxaluria%2C%20type%20I%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=604285" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=189[geneid]" target="_blank">View AGXT variations in ClinVar</a></li><li><a href="/nuccore/190194410" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=259900" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Primary+hyperoxaluria+type+1/5947" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hyperoxaluria_primary_type_i" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Primary%20hyperoxaluria,%20type%20I" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/primary-hyperoxaluria" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/2835/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301460" 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=Primary%20hyperoxaluria,%20type%20I" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Primary%20hyperoxaluria,%20type%20I%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">
|
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<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=75658" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=75658" ref="log$=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=C0268164[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0268164[DISCUI]&test_type=Clinical" ref="log$=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=C0268164[DISCUI]&test_type=Research" ref="log$=recordlinks">GTR(Research)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Research tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=75658" ref="log$=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="/books?LinkName=medgen_books&from_uid=75658" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=75658" ref="log$=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=75658" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=75658" ref="log$=recordlinks">PMC Articles</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=75658" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=75658" ref="log$=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=75658" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=75658" ref="log$=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">
|
||
<h3>Recent activity</h3>
|
||
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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<div id="HTDisplay" class="">
|
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
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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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|
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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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Turn Off
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||
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
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Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d522db84f3725e594c572e">Primary hyperoxaluria, type I</a>
|
||
<div class="ralinkpop offscreen_noflow">Primary hyperoxaluria, type I<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d522d92f30673f7b0ce2c5">Primary hyperoxaluria type 3</a>
|
||
<div class="ralinkpop offscreen_noflow">Primary hyperoxaluria type 3<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d522d384f3725e594c36f5">Primary hyperoxaluria</a>
|
||
<div class="ralinkpop offscreen_noflow">Primary hyperoxaluria<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
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