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<meta name="keywords" content="C4746745, alport syndrome 2, autosomal recessive, alport syndrome autosomal recessive, alport syndrome recessive type, alport syndrome, autosomal recessive, ats2, autosomal recessive alport syndrome, col4a4, col4a4 alport syndrome and thin basement membrane nephropathy, disease or syndrome, nephropathy and deafness, 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="Alport syndrome is characterized by kidney manifestations, sensorineural hearing loss (SNHL), and ocular manifestations. In the absence of treatment, kidney disease progresses from microhematuria to proteinuria, progressive kidney insufficiency, and end-stage kidney disease (ESKD) in most males with X-linked Alport syndrome (XLAS), and in most males and females with autosomal recessive Alport syndrome (ARAS). Progressive SNHL is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In females with XLAS and individuals with autosomal dominant Alport syndrome (ADAS), ESKD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Autosomal recessive Alport syndrome (Concept Id: C4746745)
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<!--
UID=1648334
ConceptID=C4746745
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autosomal recessive Alport syndrome<span class="h1sub">(ATS2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648334</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)&#10;Click for more information.">C4746745</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>ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; Alport syndrome recessive type; ATS2; COL4A4 Alport Syndrome and Thin Basement Membrane Nephropathy; Nephropathy and deafness</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)&#10;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="COL4A4 - ID: 1286 - NCBI Gene" href="/gene/1286" class="medgenPMinfo">COL4A4</a> (2q36.3)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0008762" target="_blank">MONDO:0008762</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/203780" target="_blank">203780</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&amp;Expert=88919">ORPHA88919</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1207" target="_blank">Alport Syndrome</a></div><div>Alport syndrome is characterized by kidney manifestations, sensorineural hearing loss (SNHL), and ocular manifestations. In the absence of treatment, kidney disease progresses from microhematuria to proteinuria, progressive kidney insufficiency, and end-stage kidney disease (ESKD) in most males with X-linked Alport syndrome (XLAS), and in most males and females with autosomal recessive Alport syndrome (ARAS). Progressive SNHL is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In females with XLAS and individuals with autosomal dominant Alport syndrome (ADAS), ESKD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare. [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/NBK1207#alport.Summary" target="NBK1207">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1207#alport.Diagnosis" target="NBK1207">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1207#alport.Clinical_Characteristics" target="NBK1207">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1207#alport.Genetically_Related_Allelic_Disor" target="NBK1207">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1207#alport.Differential_Diagnosis" target="NBK1207">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1207#alport.Management" target="NBK1207">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1207#alport.Genetic_Counseling" target="NBK1207">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1207#alport.Resources" target="NBK1207">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1207#alport.Molecular_Genetics" target="NBK1207">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1207#alport.Chapter_Notes" target="NBK1207">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1207#alport.References" target="NBK1207">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Kandai Nozu  |  Tomohiko Yamamura  |  Tomoko Horinouchi   <a href="/books/NBK1207" target="NBK1207" title="NCBI Bookshelf: Alport Syndrome">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Autosomal recessive Alport syndrome-2 (ATS2) is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Progressive deafness and ocular anomalies may also occur (Mochizuki et al., 1994; Colville et al. (1997)).&#13;
For a general phenotypic description of Alport syndrome, see the X-linked dominant form (ATS1; 301050). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive; autosomal dominant inheritance (ATS3A; 104200) is rare (van der Loop et al., 2000).&#13;
See also benign familial hematuria (BFH; 141200), a similar but milder disorder.  <a target="_blank" href="http://www.omim.org/entry/203780">http://www.omim.org/entry/203780</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br /><br /><br />In late childhood or early adolescence, many people with Alport syndrome develop sensorineural hearing loss, which is caused by abnormalities of the inner ear. Affected individuals may also have misshapen lenses in their eyes (anterior lenticonus) and abnormal coloration of the retina, which is the light-sensitive tissue at the back of the eye. These eye abnormalities seldom lead to vision loss.<br /><br />People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys gradually lose their ability to efficiently remove waste products from the body, resulting in end-stage kidney disease (ESKD).<br /><br />Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/alport-syndrome">https://medlineplus.gov/genetics/condition/alport-syndrome</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_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)&#10;Click for more information.">C0018965</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5488">Feature record</a> | <a href="/medgen?term=%22Hematuria%22%5BClinical%20Features%5D%20OR%205488%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10308"><div><strong>Nephrotic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10308</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)&#10;Click for more information.">C0027726</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10308">Feature record</a> | <a href="/medgen?term=%22Nephrotic%20syndrome%22%5BClinical%20Features%5D%20OR%2010308%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10976"><div><strong>Proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10976</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0033687</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Increased levels of protein in the urine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10976">Feature record</a> | <a href="/medgen?term=%22Proteinuria%22%5BClinical%20Features%5D%20OR%2010976%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_488906"><div><strong>Thickened glomerular basement membrane</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488906</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)&#10;Click for more information.">C0445347</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/488906">Feature record</a> | <a href="/medgen?term=%22Thickened%20glomerular%20basement%20membrane%22%5BClinical%20Features%5D%20OR%20488906%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_332529"><div><strong>Renal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332529</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1565489</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/332529">Feature record</a> | <a href="/medgen?term=%22Renal%20insufficiency%22%5BClinical%20Features%5D%20OR%20332529%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_384526"><div><strong>Stage 5 chronic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384526</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2316810</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/384526">Feature record</a> | <a href="/medgen?term=%22Stage%205%20chronic%20kidney%20disease%22%5BClinical%20Features%5D%20OR%20384526%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1787773"><div><strong>Glomerular basement membrane lamellation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1787773</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)&#10;Click for more information.">C5539416</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Presence of abnormal additional layers of the basement membrane of the glomerulus.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1787773">Feature record</a> | <a href="/medgen?term=%22Glomerular%20basement%20membrane%20lamellation%22%5BClinical%20Features%5D%20OR%201787773%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</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)&#10;Click for more information.">C0020538</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_235586"><div><strong>Hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235586</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)&#10;Click for more information.">C1384666</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A decreased magnitude of the sensory perception of sound.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/235586">Feature record</a> | <a href="/medgen?term=%22Hearing%20impairment%22%5BClinical%20Features%5D%20OR%20235586%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_14328"><div><strong>Nephritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14328</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)&#10;Click for more information.">C0027697</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of inflammation affecting the kidney.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/14328">Feature record</a> | <a href="/medgen?term=%22Nephritis%22%5BClinical%20Features%5D%20OR%2014328%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_44558"><div><strong>Myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44558</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)&#10;Click for more information.">C0027092</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/44558">Feature record</a> | <a href="/medgen?term=%22Myopia%22%5BClinical%20Features%5D%20OR%2044558%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_39462"><div><strong>Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39462</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)&#10;Click for more information.">C0086543</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39462">Feature record</a> | <a href="/medgen?term=%22Cataract%22%5BClinical%20Features%5D%20OR%2039462%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_473077"><div><strong>Anterior lenticonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473077</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)&#10;Click for more information.">C0344262</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/473077">Feature record</a> | <a href="/medgen?term=%22Anterior%20lenticonus%22%5BClinical%20Features%5D%20OR%20473077%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_97882"><div><strong>Corneal erosion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>97882</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)&#10;Click for more information.">C0392163</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An erosion or abrasion of the cornea's outermost layer of epithelial cells.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/97882">Feature record</a> | <a href="/medgen?term=%22Corneal%20erosion%22%5BClinical%20Features%5D%20OR%2097882%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><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_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</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_473077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anterior lenticonus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_97882" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal erosion</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44558" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopia</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_1787773" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glomerular basement membrane lamellation</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_10308" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrotic syndrome</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteinuria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal insufficiency</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_384526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stage 5 chronic kidney disease</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488906" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thickened glomerular basement membrane</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14328" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephritis</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_235586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hearing impairment</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN076135[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=449510">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=449510">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/449510" ref="tree=GTR&amp;ncbi_uid=449510&amp;link_uid=449510" title="View MedGen record for 'Collagen IV-related nephropathies'">Collagen IV-related nephropathies</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1567741[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=339209">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&amp;from_uid=339209" ref="ncbi_uid=339209">V</a></span></span><span class="TLline"><a href="/medgen/339209" ref="tree=GTR&amp;ncbi_uid=339209&amp;link_uid=339209" title="View MedGen record for 'Alport syndrome'">Alport syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5882663[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1848787">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1848787" target="_blank" href="/omim/104200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1848787">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1848787" ref="ncbi_uid=1848787">V</a></span></span><span class="TLline"><a href="/medgen/1848787" ref="tree=GTR&amp;ncbi_uid=1848787&amp;link_uid=1848787" title="View MedGen record for 'Autosomal dominant Alport syndrome'">Autosomal dominant Alport syndrome</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4746745[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1648334">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648334" target="_blank" href="/omim/120131">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1648334">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1648334" ref="ncbi_uid=1648334">V</a></span></span><span class="TLline">Autosomal recessive Alport syndrome</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4746986[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1648433">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648433" target="_blank" href="/omim/301050">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1648433">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1648433" ref="ncbi_uid=1648433">V</a></span></span><span class="TLline"><a href="/medgen/1648433" ref="tree=GTR&amp;ncbi_uid=1648433&amp;link_uid=1648433" title="View MedGen record for 'X-linked Alport syndrome'">X-linked Alport syndrome</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0241908[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=66039">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=66039" target="_blank" href="/omim/120131">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=66039" ref="ncbi_uid=66039">V</a></span></span><span class="TLline"><a href="/medgen/66039" ref="tree=GTR&amp;ncbi_uid=66039&amp;link_uid=66039" title="View MedGen record for 'Benign familial hematuria'">Benign familial hematuria</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/1053162" ref="tree=GTR&amp;ncbi_uid=1053162&amp;link_uid=1053162" title="View MedGen record for 'Hematuria, benign familial, 1'">Hematuria, benign familial, 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841057" target="_blank" href="/omim/120070">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1841057" ref="ncbi_uid=1841057">V</a></span></span><span class="TLline"><a href="/medgen/1841057" ref="tree=GTR&amp;ncbi_uid=1841057&amp;link_uid=1841057" title="View MedGen record for 'Hematuria, benign familial, 2'">Hematuria, benign familial, 2</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/449510" ref="tree=MeSH" title="MedGen record for Collagen IV-related nephropathies">Collagen IV-related nephropathies</a></span><ul><li><span class="TLline"><a href="/medgen/339209" ref="tree=MeSH" title="MedGen record for Alport syndrome">Alport syndrome</a></span><ul><li><span class="matched_ds">Autosomal recessive Alport syndrome</span></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/33772369">Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
Böckhaus J,
Wang F,
Wang S,
Rubel D,
Gross O,
Ding J</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2021 Sep;36(9):2719-2730.
Epub 2021 Mar 27
doi: 10.1007/s00467-021-05040-9.
<span class="bold">PMID: </span><a href="/pubmed/33772369" target="_blank">33772369</a><a href="/pmc/articles/PMC8370956" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33159213">Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kashtan CE,
Gross O</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2021 Mar;36(3):711-719.
Epub 2020 Nov 6
doi: 10.1007/s00467-020-04819-6.
<span class="bold">PMID: </span><a href="/pubmed/33159213" target="_blank">33159213</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27627812">X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
Storey H,
Il Cheong H,
Gyung Kang H,
Park E,
Hilbert P,
Persikov A,
Torres-Fernandez C,
Ars E,
Torra R,
Hertz JM,
Thomassen M,
Shagam L,
Wang D,
Wang Y,
Flinter F,
Nagel M</span><br />
<span class="medgenPMjournal">PLoS One</span>
2016;11(9):e0161802.
Epub 2016 Sep 14
doi: 10.1371/journal.pone.0161802.
<span class="bold">PMID: </span><a href="/pubmed/27627812" target="_blank">27627812</a><a href="/pmc/articles/PMC5023110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22autosomal%20recessive%20alport%20syndrome%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 (4)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/22166944">Clinical utility gene card for: Alport syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hertz JM,
Thomassen M,
Storey H,
Flinter F</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2012 Jun;20(6)
Epub 2011 Dec 14
doi: 10.1038/ejhg.2011.237.
<span class="bold">PMID: </span><a href="/pubmed/22166944" target="_blank">22166944</a><a href="/pmc/articles/PMC3355248" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></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/35675912">Digenic Alport Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
Renieri A,
Ars E,
Daga S,
Pinto AM,
Rothe H,
Gale DP,
Aksenova M,
Cerkauskaite A,
Bielska O,
Lipska-Zietkiewicz B,
Gibson JT</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2022 Nov;17(11):1697-1706.
Epub 2022 Jun 8
doi: 10.2215/CJN.03120322.
<span class="bold">PMID: </span><a href="/pubmed/35675912" target="_blank">35675912</a><a href="/pmc/articles/PMC9718039" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33772369">Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
Böckhaus J,
Wang F,
Wang S,
Rubel D,
Gross O,
Ding J</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2021 Sep;36(9):2719-2730.
Epub 2021 Mar 27
doi: 10.1007/s00467-021-05040-9.
<span class="bold">PMID: </span><a href="/pubmed/33772369" target="_blank">33772369</a><a href="/pmc/articles/PMC8370956" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28236514">Familial hematuria: A review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Plevová P,
Gut J,
Janda J</span><br />
<span class="medgenPMjournal">Medicina (Kaunas)</span>
2017;53(1):1-10.
Epub 2017 Jan 31
doi: 10.1016/j.medici.2017.01.002.
<span class="bold">PMID: </span><a href="/pubmed/28236514" target="_blank">28236514</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27377778">COL4A6 is dispensable for autosomal recessive Alport syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Murata T,
Katayama K,
Oohashi T,
Jahnukainen T,
Yonezawa T,
Sado Y,
Ishikawa E,
Nomura S,
Tryggvason K,
Ito M</span><br />
<span class="medgenPMjournal">Sci Rep</span>
2016 Jul 5;6:29450.
doi: 10.1038/srep29450.
<span class="bold">PMID: </span><a href="/pubmed/27377778" target="_blank">27377778</a><a href="/pmc/articles/PMC4932521" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27281700">Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kamiyoshi N,
Nozu K,
Fu XJ,
Morisada N,
Nozu Y,
Ye MJ,
Imafuku A,
Miura K,
Yamamura T,
Minamikawa S,
Shono A,
Ninchoji T,
Morioka I,
Nakanishi K,
Yoshikawa N,
Kaito H,
Iijima K</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2016 Aug 8;11(8):1441-1449.
Epub 2016 Jun 8
doi: 10.2215/CJN.01000116.
<span class="bold">PMID: </span><a href="/pubmed/27281700" target="_blank">27281700</a><a href="/pmc/articles/PMC4974872" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20Alport%20syndrome%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 (20)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35948208">Bilateral Macular Retinoschisis Caused by Autosomal Recessive Alport Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fortes BH,
Tailor PD,
Schimmenti LA,
Iezzi R</span><br />
<span class="medgenPMjournal">Ophthalmol Retina</span>
2022 Dec;6(12):1260-1262.
Epub 2022 Aug 7
doi: 10.1016/j.oret.2022.08.002.
<span class="bold">PMID: </span><a href="/pubmed/35948208" target="_blank">35948208</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33159213">Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kashtan CE,
Gross O</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2021 Mar;36(3):711-719.
Epub 2020 Nov 6
doi: 10.1007/s00467-020-04819-6.
<span class="bold">PMID: </span><a href="/pubmed/33159213" target="_blank">33159213</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28236514">Familial hematuria: A review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Plevová P,
Gut J,
Janda J</span><br />
<span class="medgenPMjournal">Medicina (Kaunas)</span>
2017;53(1):1-10.
Epub 2017 Jan 31
doi: 10.1016/j.medici.2017.01.002.
<span class="bold">PMID: </span><a href="/pubmed/28236514" target="_blank">28236514</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27281700">Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kamiyoshi N,
Nozu K,
Fu XJ,
Morisada N,
Nozu Y,
Ye MJ,
Imafuku A,
Miura K,
Yamamura T,
Minamikawa S,
Shono A,
Ninchoji T,
Morioka I,
Nakanishi K,
Yoshikawa N,
Kaito H,
Iijima K</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2016 Aug 8;11(8):1441-1449.
Epub 2016 Jun 8
doi: 10.2215/CJN.01000116.
<span class="bold">PMID: </span><a href="/pubmed/27281700" target="_blank">27281700</a><a href="/pmc/articles/PMC4974872" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24052634">COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Storey H,
Savige J,
Sivakumar V,
Abbs S,
Flinter FA</span><br />
<span class="medgenPMjournal">J Am Soc Nephrol</span>
2013 Dec;24(12):1945-54.
Epub 2013 Sep 19
doi: 10.1681/ASN.2012100985.
<span class="bold">PMID: </span><a href="/pubmed/24052634" target="_blank">24052634</a><a href="/pmc/articles/PMC3839543" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20Alport%20syndrome%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 (44)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/33772369">Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
Böckhaus J,
Wang F,
Wang S,
Rubel D,
Gross O,
Ding J</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2021 Sep;36(9):2719-2730.
Epub 2021 Mar 27
doi: 10.1007/s00467-021-05040-9.
<span class="bold">PMID: </span><a href="/pubmed/33772369" target="_blank">33772369</a><a href="/pmc/articles/PMC8370956" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27904025">Early RAAS Blockade Exerts Renoprotective Effects in Autosomal Recessive Alport Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Uchida N,
Kumagai N,
Nozu K,
Fu XJ,
Iijima K,
Kondo Y,
Kure S</span><br />
<span class="medgenPMjournal">Tohoku J Exp Med</span>
2016 Nov;240(3):251-257.
doi: 10.1620/tjem.240.251.
<span class="bold">PMID: </span><a href="/pubmed/27904025" target="_blank">27904025</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27627812">X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
Storey H,
Il Cheong H,
Gyung Kang H,
Park E,
Hilbert P,
Persikov A,
Torres-Fernandez C,
Ars E,
Torra R,
Hertz JM,
Thomassen M,
Shagam L,
Wang D,
Wang Y,
Flinter F,
Nagel M</span><br />
<span class="medgenPMjournal">PLoS One</span>
2016;11(9):e0161802.
Epub 2016 Sep 14
doi: 10.1371/journal.pone.0161802.
<span class="bold">PMID: </span><a href="/pubmed/27627812" target="_blank">27627812</a><a href="/pmc/articles/PMC5023110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16236801">Distinct epitopes for anti-glomerular basement membrane alport alloantibodies and goodpasture autoantibodies within the noncollagenous domain of alpha3(IV) collagen: a janus-faced antigen.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang XP,
Fogo AB,
Colon S,
Giannico G,
Abul-Ezz SR,
Miner JH,
Borza DB</span><br />
<span class="medgenPMjournal">J Am Soc Nephrol</span>
2005 Dec;16(12):3563-71.
Epub 2005 Oct 19
doi: 10.1681/ASN.2005060670.
<span class="bold">PMID: </span><a href="/pubmed/16236801" target="_blank">16236801</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20Alport%20syndrome%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35675912">Digenic Alport Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
Renieri A,
Ars E,
Daga S,
Pinto AM,
Rothe H,
Gale DP,
Aksenova M,
Cerkauskaite A,
Bielska O,
Lipska-Zietkiewicz B,
Gibson JT</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2022 Nov;17(11):1697-1706.
Epub 2022 Jun 8
doi: 10.2215/CJN.03120322.
<span class="bold">PMID: </span><a href="/pubmed/35675912" target="_blank">35675912</a><a href="/pmc/articles/PMC9718039" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27627812">X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
Storey H,
Il Cheong H,
Gyung Kang H,
Park E,
Hilbert P,
Persikov A,
Torres-Fernandez C,
Ars E,
Torra R,
Hertz JM,
Thomassen M,
Shagam L,
Wang D,
Wang Y,
Flinter F,
Nagel M</span><br />
<span class="medgenPMjournal">PLoS One</span>
2016;11(9):e0161802.
Epub 2016 Sep 14
doi: 10.1371/journal.pone.0161802.
<span class="bold">PMID: </span><a href="/pubmed/27627812" target="_blank">27627812</a><a href="/pmc/articles/PMC5023110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27287265">Alport Syndrome in Women and Girls.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
Colville D,
Rheault M,
Gear S,
Lennon R,
Lagas S,
Finlay M,
Flinter F</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2016 Sep 7;11(9):1713-1720.
Epub 2016 Jun 10
doi: 10.2215/CJN.00580116.
<span class="bold">PMID: </span><a href="/pubmed/27287265" target="_blank">27287265</a><a href="/pmc/articles/PMC5012472" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19195966">Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Haas M</span><br />
<span class="medgenPMjournal">Arch Pathol Lab Med</span>
2009 Feb;133(2):224-32.
doi: 10.5858/133.2.224.
<span class="bold">PMID: </span><a href="/pubmed/19195966" target="_blank">19195966</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12969134">Thin basement membrane nephropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
Rana K,
Tonna S,
Buzza M,
Dagher H,
Wang YY</span><br />
<span class="medgenPMjournal">Kidney Int</span>
2003 Oct;64(4):1169-78.
doi: 10.1046/j.1523-1755.2003.00234.x.
<span class="bold">PMID: </span><a href="/pubmed/12969134" target="_blank">12969134</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20Alport%20syndrome%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 (19)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/35675912">Digenic Alport Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
Renieri A,
Ars E,
Daga S,
Pinto AM,
Rothe H,
Gale DP,
Aksenova M,
Cerkauskaite A,
Bielska O,
Lipska-Zietkiewicz B,
Gibson JT</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2022 Nov;17(11):1697-1706.
Epub 2022 Jun 8
doi: 10.2215/CJN.03120322.
<span class="bold">PMID: </span><a href="/pubmed/35675912" target="_blank">35675912</a><a href="/pmc/articles/PMC9718039" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28236514">Familial hematuria: A review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Plevová P,
Gut J,
Janda J</span><br />
<span class="medgenPMjournal">Medicina (Kaunas)</span>
2017;53(1):1-10.
Epub 2017 Jan 31
doi: 10.1016/j.medici.2017.01.002.
<span class="bold">PMID: </span><a href="/pubmed/28236514" target="_blank">28236514</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27627812">X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
Storey H,
Il Cheong H,
Gyung Kang H,
Park E,
Hilbert P,
Persikov A,
Torres-Fernandez C,
Ars E,
Torra R,
Hertz JM,
Thomassen M,
Shagam L,
Wang D,
Wang Y,
Flinter F,
Nagel M</span><br />
<span class="medgenPMjournal">PLoS One</span>
2016;11(9):e0161802.
Epub 2016 Sep 14
doi: 10.1371/journal.pone.0161802.
<span class="bold">PMID: </span><a href="/pubmed/27627812" target="_blank">27627812</a><a href="/pmc/articles/PMC5023110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27377778">COL4A6 is dispensable for autosomal recessive Alport syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Murata T,
Katayama K,
Oohashi T,
Jahnukainen T,
Yonezawa T,
Sado Y,
Ishikawa E,
Nomura S,
Tryggvason K,
Ito M</span><br />
<span class="medgenPMjournal">Sci Rep</span>
2016 Jul 5;6:29450.
doi: 10.1038/srep29450.
<span class="bold">PMID: </span><a href="/pubmed/27377778" target="_blank">27377778</a><a href="/pmc/articles/PMC4932521" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24178893">Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
Sivakumar V,
Mohammad M,
Colville D,
Storey H,
Flinter F,
Dagher H,
Savige J</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2014 Mar;29(3):391-6.
Epub 2013 Nov 2
doi: 10.1007/s00467-013-2643-0.
<span class="bold">PMID: </span><a href="/pubmed/24178893" target="_blank">24178893</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20Alport%20syndrome%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 (18)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4746745%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (48)</a></li>
<li><a href="/gtr/tests?term=C4746745%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
<li><a href="/gtr/tests?term=C4746745%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (67)</a></li>
<li><a href="/gtr/tests?term=C4746745%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (11)</a></li>
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