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<meta name="keywords" content="C0002985, angiokeratoma, angiokeratoma (morphologic abnormality), angiokeratoma of skin, angiokeratoma of the skin, angiokeratomas, cutaneous angiokeratoma, neoplastic process, skin angiokeratoma, 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="Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1542
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ConceptID=C0002985
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Angiokeratoma</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1542</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.">C0002985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Angiokeratomas</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Angiokeratoma (26810009)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001014">HP:0001014</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0003143" target="_blank">MONDO:0003143</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline">Angiokeratoma</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/777113" ref="tree=MeSH" title="MedGen record for Congenital anomaly of cardiovascular system">Congenital anomaly of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/743837" ref="tree=MeSH" title="MedGen record for Congenital vascular malformation">Congenital vascular malformation</a></span><ul><li><span class="TLline"><a href="/medgen/8080" ref="tree=MeSH" title="MedGen record for Vascular ectasia">Vascular ectasia</a></span><ul><li><span class="matched_ds">Angiokeratoma</span><ul><li><span class="TLline"><a href="/medgen/1841777" ref="tree=MeSH" title="MedGen record for Angiokeratoma circumscriptum naeviforme">Angiokeratoma circumscriptum naeviforme</a></span></li><li><span class="TLline"><a href="/medgen/75529" ref="tree=MeSH" title="MedGen record for Angiokeratoma of Fordyce">Angiokeratoma of Fordyce</a></span></li><li><span class="TLline"><a href="/medgen/78100" ref="tree=MeSH" title="MedGen record for Angiokeratoma of mibelli">Angiokeratoma of mibelli</a></span></li><li><span class="TLline"><a href="/medgen/8083" ref="tree=MeSH" title="MedGen record for Fabry disease">Fabry disease</a></span></li><li><span class="TLline"><a href="/medgen/83403" ref="tree=MeSH" title="MedGen record for Skin Angiokeratoma">Skin Angiokeratoma</a></span><ul><li><span class="TLline"><a href="/medgen/120485" ref="tree=MeSH" title="MedGen record for Angiokeratoma circumscriptum">Angiokeratoma circumscriptum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841647" ref="tree=MeSH" title="MedGen record for Solitary angiokeratoma">Solitary angiokeratoma</a></span></li><li><span class="TLline"><a href="/medgen/266144" ref="tree=MeSH" title="MedGen record for Vulvar angiokeratoma">Vulvar angiokeratoma</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_8083"><div><strong>Fabry disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8083</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.">C0002986</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (a-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body. The classic form, occurring in males with less than 1% a-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhidrosis, hypohidrosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of kidney function to end-stage kidney disease (ESKD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESKD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, females may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, late-onset forms occur in males with greater than 1% a-Gal A activity. Clinical manifestations include cardiac disease, which usually presents in the sixth to eighth decade with left ventricular hypertrophy, cardiomyopathy, arrhythmia, and proteinuria; kidney failure, associated with ESKD but without the skin lesions or pain; or cerebrovascular disease presenting as stroke or transient ischemic attack.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8083">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_5288"><div><strong>Fucosidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5288</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.">C0016788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al., 1976).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5288">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_208669"><div><strong>Ramon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208669</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.">C0796133</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual disability. Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208669">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_888408"><div><strong>Beta-D-mannosidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>888408</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.">C4048196</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Beta-mannosidosis (MANSB) is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal beta-mannosidase activity. The most severely affected patients show developmental delay and mental retardation, but there are differing levels of severity and some patients may have comparatively mild disease (Bedilu et al., 2002). The disorder was first described in goats (Jones and Dawson, 1981), who have a more severe neurodegenerative disorder than that seen in humans.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/888408">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_888408" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Beta-D-mannosidosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_8083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fabry disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_5288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fucosidosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208669" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ramon syndrome</a></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/36098675">S2k guideline: Laser therapy of the skin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paasch U,
|
||
Zidane M,
|
||
Baron JM,
|
||
Bund T,
|
||
Cappius HJ,
|
||
Drosner M,
|
||
Feise K,
|
||
Fischer T,
|
||
Gauglitz G,
|
||
Gerber PA,
|
||
Grunewald S,
|
||
Herberger K,
|
||
Jung A,
|
||
Karsai S,
|
||
Kautz G,
|
||
Philipp C,
|
||
Schädel D,
|
||
Seitz AT,
|
||
Nast A</span><br />
|
||
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
|
||
2022 Sep;20(9):1248-1267.
|
||
Epub 2022 Sep 13
|
||
doi: 10.1111/ddg.14879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36098675" target="_blank">36098675</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29152831">Laser treatment of cutaneous angiokeratomas: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen J,
|
||
Chapman LW,
|
||
Korta DZ,
|
||
Zachary CB</span><br />
|
||
<span class="medgenPMjournal">Dermatol Ther</span>
|
||
2017 Nov;30(6)
|
||
Epub 2017 Nov 19
|
||
doi: 10.1111/dth.12558.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29152831" target="_blank">29152831</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25241095">Lymphatic malformations: diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elluru RG,
|
||
Balakrishnan K,
|
||
Padua HM</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2014 Aug;23(4):178-85.
|
||
Epub 2014 Jul 15
|
||
doi: 10.1053/j.sempedsurg.2014.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25241095" target="_blank">25241095</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22angiokeratoma%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 (22)</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/32132142">The Changing Landscape of Fabry Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Svarstad E,
|
||
Marti HP</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2020 Apr 7;15(4):569-576.
|
||
Epub 2020 Mar 4
|
||
doi: 10.2215/CJN.09480819.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32132142" target="_blank">32132142</a><a href="/pmc/articles/PMC7133143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28297141">Immunohistochemical Staining of Pediatric Solitary Angiokeratomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prindaville B,
|
||
Lawrence H,
|
||
Singh V,
|
||
Nopper AJ,
|
||
Horii KA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2017 Mar;34(2):211-213.
|
||
doi: 10.1111/pde.13089.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28297141" target="_blank">28297141</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26564084">Fabry disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schiffmann R</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2015;132:231-48.
|
||
doi: 10.1016/B978-0-444-62702-5.00017-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26564084" target="_blank">26564084</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15458538">Angiokeratoma circumscriptum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozdemir R,
|
||
Karaaslan O,
|
||
Tiftikcioglu YO,
|
||
Kocer U</span><br />
|
||
<span class="medgenPMjournal">Dermatol Surg</span>
|
||
2004 Oct;30(10):1364-6.
|
||
doi: 10.1111/j.1524-4725.2004.30413.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15458538" target="_blank">15458538</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5085061">Anderson-Fabry dyslipidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson ML</span><br />
|
||
<span class="medgenPMjournal">Proc R Soc Med</span>
|
||
1972 Sep;65(9):768-70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5085061" target="_blank">5085061</a><a href="/pmc/articles/PMC1644571" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Angiokeratoma%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 (92)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38580593">Congenital angiokeratoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mansilla-Polo M,
|
||
Martín-Torregrosa D</span><br />
|
||
<span class="medgenPMjournal">An Pediatr (Engl Ed)</span>
|
||
2024 May;100(5):385.
|
||
Epub 2024 Apr 4
|
||
doi: 10.1016/j.anpede.2024.03.048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38580593" target="_blank">38580593</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29562089">A Review of Fabry Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan B,
|
||
Adam DN</span><br />
|
||
<span class="medgenPMjournal">Skin Therapy Lett</span>
|
||
2018 Mar;23(2):4-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29562089" target="_blank">29562089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27289134">Cutaneous Pseudolymphomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romero-Pérez D,
|
||
Blanes Martínez M,
|
||
Encabo-Durán B</span><br />
|
||
<span class="medgenPMjournal">Actas Dermosifiliogr</span>
|
||
2016 Oct;107(8):640-51.
|
||
Epub 2016 Jun 8
|
||
doi: 10.1016/j.ad.2016.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27289134" target="_blank">27289134</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26564084">Fabry disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schiffmann R</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2015;132:231-48.
|
||
doi: 10.1016/B978-0-444-62702-5.00017-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26564084" target="_blank">26564084</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21092187">Fabry disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Germain DP</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Nov 22;5:30.
|
||
doi: 10.1186/1750-1172-5-30.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21092187" target="_blank">21092187</a><a href="/pmc/articles/PMC3009617" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Angiokeratoma%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 (321)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36916492">Enoxaparin-induced eruptive angiokeratomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niedźwiedź M,
|
||
Żebrowska A,
|
||
Lesiak A,
|
||
Narbutt J,
|
||
Skibińska M</span><br />
|
||
<span class="medgenPMjournal">Pol Arch Intern Med</span>
|
||
2023 May 23;133(5)
|
||
Epub 2023 Mar 14
|
||
doi: 10.20452/pamw.16463.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36916492" target="_blank">36916492</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32132142">The Changing Landscape of Fabry Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Svarstad E,
|
||
Marti HP</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2020 Apr 7;15(4):569-576.
|
||
Epub 2020 Mar 4
|
||
doi: 10.2215/CJN.09480819.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32132142" target="_blank">32132142</a><a href="/pmc/articles/PMC7133143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29562089">A Review of Fabry Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan B,
|
||
Adam DN</span><br />
|
||
<span class="medgenPMjournal">Skin Therapy Lett</span>
|
||
2018 Mar;23(2):4-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29562089" target="_blank">29562089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27289134">Cutaneous Pseudolymphomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romero-Pérez D,
|
||
Blanes Martínez M,
|
||
Encabo-Durán B</span><br />
|
||
<span class="medgenPMjournal">Actas Dermosifiliogr</span>
|
||
2016 Oct;107(8):640-51.
|
||
Epub 2016 Jun 8
|
||
doi: 10.1016/j.ad.2016.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27289134" target="_blank">27289134</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21092187">Fabry disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Germain DP</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Nov 22;5:30.
|
||
doi: 10.1186/1750-1172-5-30.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21092187" target="_blank">21092187</a><a href="/pmc/articles/PMC3009617" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Angiokeratoma%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 (69)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32132142">The Changing Landscape of Fabry Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Svarstad E,
|
||
Marti HP</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2020 Apr 7;15(4):569-576.
|
||
Epub 2020 Mar 4
|
||
doi: 10.2215/CJN.09480819.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32132142" target="_blank">32132142</a><a href="/pmc/articles/PMC7133143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28675468">Acral angiokeratoma-like pseudolymphoma in a middle-aged woman.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geller S,
|
||
Markova A,
|
||
Pulitzer M,
|
||
Myskowski PL</span><br />
|
||
<span class="medgenPMjournal">J Cutan Pathol</span>
|
||
2017 Oct;44(10):878-881.
|
||
Epub 2017 Jul 24
|
||
doi: 10.1111/cup.12999.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28675468" target="_blank">28675468</a><a href="/pmc/articles/PMC5624521" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27289134">Cutaneous Pseudolymphomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romero-Pérez D,
|
||
Blanes Martínez M,
|
||
Encabo-Durán B</span><br />
|
||
<span class="medgenPMjournal">Actas Dermosifiliogr</span>
|
||
2016 Oct;107(8):640-51.
|
||
Epub 2016 Jun 8
|
||
doi: 10.1016/j.ad.2016.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27289134" target="_blank">27289134</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12778775">Anderson-Fabry disease in Austria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lorenz M,
|
||
Hauser AC,
|
||
Püspök-Schwarz M,
|
||
Kotanko P,
|
||
Arias I,
|
||
Zodl H,
|
||
Kramar R,
|
||
Paschke E,
|
||
Voigtländer T,
|
||
Sunder-Plassmann G</span><br />
|
||
<span class="medgenPMjournal">Wien Klin Wochenschr</span>
|
||
2003 Apr 30;115(7-8):235-40.
|
||
doi: 10.1007/BF03040321.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12778775" target="_blank">12778775</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8993949">Angiokeratomas: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schiller PI,
|
||
Itin PH</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
1996;193(4):275-82.
|
||
doi: 10.1159/000246270.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8993949" target="_blank">8993949</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Angiokeratoma%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 (60)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34749432">Verrucous venous malformation with thrombocytopenia in a neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reyes-Hadsall SC,
|
||
Fayiga FF,
|
||
Duarte AM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2021 Nov;38(6):1553-1557.
|
||
Epub 2021 Nov 8
|
||
doi: 10.1111/pde.14857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34749432" target="_blank">34749432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32132142">The Changing Landscape of Fabry Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Svarstad E,
|
||
Marti HP</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2020 Apr 7;15(4):569-576.
|
||
Epub 2020 Mar 4
|
||
doi: 10.2215/CJN.09480819.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32132142" target="_blank">32132142</a><a href="/pmc/articles/PMC7133143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28418344">Rare Giant Angiokeratoma of the Vulva: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Doğan F,
|
||
Bucak İH</span><br />
|
||
<span class="medgenPMjournal">Balkan Med J</span>
|
||
2017 Apr 5;34(2):163-164.
|
||
doi: 10.4274/balkanmedj.2014.0724.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28418344" target="_blank">28418344</a><a href="/pmc/articles/PMC5394298" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10688730">Linear verrucous hemangioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wentscher U,
|
||
Happle R</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2000 Mar;42(3):516-8.
|
||
doi: 10.1016/s0190-9622(00)90232-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10688730" target="_blank">10688730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3989013">Angiokeratoma vulvae.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Novick NL</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1985 Mar;12(3):561-3.
|
||
doi: 10.1016/s0190-9622(85)70078-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3989013" target="_blank">3989013</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Angiokeratoma%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 (71)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/31405600">Systematic review of oral and craniofacial findings in patients with Fabry disease or Pompe disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benz K,
|
||
Hahn P,
|
||
Hanisch M,
|
||
Lücke K,
|
||
Lücke T,
|
||
Jackowski J</span><br />
|
||
<span class="medgenPMjournal">Br J Oral Maxillofac Surg</span>
|
||
2019 Nov;57(9):831-838.
|
||
Epub 2019 Aug 9
|
||
doi: 10.1016/j.bjoms.2019.07.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31405600" target="_blank">31405600</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29152831">Laser treatment of cutaneous angiokeratomas: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen J,
|
||
Chapman LW,
|
||
Korta DZ,
|
||
Zachary CB</span><br />
|
||
<span class="medgenPMjournal">Dermatol Ther</span>
|
||
2017 Nov;30(6)
|
||
Epub 2017 Nov 19
|
||
doi: 10.1111/dth.12558.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29152831" target="_blank">29152831</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25442977">Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smid BE,
|
||
van der Tol L,
|
||
Cecchi F,
|
||
Elliott PM,
|
||
Hughes DA,
|
||
Linthorst GE,
|
||
Timmermans J,
|
||
Weidemann F,
|
||
West ML,
|
||
Biegstraaten M,
|
||
Lekanne Deprez RH,
|
||
Florquin S,
|
||
Postema PG,
|
||
Tomberli B,
|
||
van der Wal AC,
|
||
van den Bergh Weerman MA,
|
||
Hollak CE</span><br />
|
||
<span class="medgenPMjournal">Int J Cardiol</span>
|
||
2014 Dec 15;177(2):400-8.
|
||
Epub 2014 Sep 20
|
||
doi: 10.1016/j.ijcard.2014.09.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25442977" target="_blank">25442977</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Angiokeratoma%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
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|
||
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|
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|
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Angiokeratoma" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22angiokeratoma%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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