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<meta name="keywords" content="C0241961, angiomyolipoma, angiomyolipoma of kidney, angiomyolipoma of the kidney, hamartoma of kidney, kidney angiomyolipoma, neoplastic process, raml, renal angiomyolipoma, 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="A benign renal neoplasm composed of fat, vascular, and smooth muscle elements." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=69146
|
||
ConceptID=C0241961
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Kidney angiomyolipoma</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69146</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.">C0241961</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Renal angiomyolipoma</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Angiomyolipoma of kidney (254921004); Hamartoma of kidney (254921004)</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:0006772">HP:0006772</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0004555" target="_blank">MONDO:0004555</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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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">A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. [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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0042065[DISCUI]&test_type=Clinical" ref="ncbi_uid=22583">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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/22583" ref="tree=GTR&ncbi_uid=22583&link_uid=22583" title="View MedGen record for 'Neoplasm of the genitourinary tract'">Neoplasm of the genitourinary tract</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=C0474809[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=105374">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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/105374" ref="tree=GTR&ncbi_uid=105374&link_uid=105374" title="View MedGen record for 'Endometrioid tumor'">Endometrioid tumor</a></span></li><li class="matched_ds"><span class="TLline">Kidney angiomyolipoma</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0376358[DISCUI]&test_type=Clinical" ref="ncbi_uid=138169">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=138169" target="_blank" href="/omim/176807">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=138169" ref="ncbi_uid=138169">V</a></span></span><span class="TLline"><a href="/medgen/138169" ref="tree=GTR&ncbi_uid=138169&link_uid=138169" title="View MedGen record for 'Malignant tumor of prostate'">Malignant tumor of prostate</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=C2931456[DISCUI]&test_type=Clinical" ref="ncbi_uid=419810">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419810" ref="ncbi_uid=419810">V</a></span></span><span class="TLline"><a href="/medgen/419810" ref="tree=GTR&ncbi_uid=419810&link_uid=419810" title="View MedGen record for 'Familial prostate cancer'">Familial prostate cancer</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=C0153594[DISCUI]&test_type=Clinical" ref="ncbi_uid=56313">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=56313" ref="ncbi_uid=56313">V</a></span></span><span class="TLline"><a href="/medgen/56313" ref="tree=GTR&ncbi_uid=56313&link_uid=56313" title="View MedGen record for 'Malignant tumor of testis'">Malignant tumor of testis</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=C1336708[DISCUI]&test_type=Clinical" ref="ncbi_uid=277809">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=277809" target="_blank" href="/omim/273300">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=277809" ref="ncbi_uid=277809">V</a></span></span><span class="TLline"><a href="/medgen/277809" ref="tree=GTR&ncbi_uid=277809&link_uid=277809" title="View MedGen record for 'Germ cell tumor of testis'">Germ cell tumor of testis</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=11371" target="_blank" href="/omim/273300">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/11371" ref="tree=GTR&ncbi_uid=11371&link_uid=11371" title="View MedGen record for 'Seminoma'">Seminoma</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=68669" target="_blank" href="/omim/273300">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/68669" ref="tree=GTR&ncbi_uid=68669&link_uid=68669" title="View MedGen record for 'Testicular teratoma'">Testicular teratoma</a></span></li></ul></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=102281" target="_blank" href="/omim/191600">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/102281" ref="tree=GTR&ncbi_uid=102281&link_uid=102281" title="View MedGen record for 'Malignant tumor of ureter'">Malignant tumor of ureter</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0005684[DISCUI]&test_type=Clinical" ref="ncbi_uid=14150">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=14150" target="_blank" href="/omim/109800">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=14150" ref="ncbi_uid=14150">V</a></span></span><span class="TLline"><a href="/medgen/14150" ref="tree=GTR&ncbi_uid=14150&link_uid=14150" title="View MedGen record for 'Malignant tumor of urinary bladder'">Malignant tumor of urinary bladder</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=C0699885[DISCUI]&test_type=Clinical" ref="ncbi_uid=147071">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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/147071" ref="tree=GTR&ncbi_uid=147071&link_uid=147071" title="View MedGen record for 'Urinary bladder carcinoma'">Urinary bladder carcinoma</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=C0015558[DISCUI]&test_type=Clinical" ref="ncbi_uid=8775">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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/8775" ref="tree=GTR&ncbi_uid=8775&link_uid=8775" title="View MedGen record for 'Neoplasm of fallopian tube'">Neoplasm of fallopian tube</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0042138[DISCUI]&test_type=Clinical" ref="ncbi_uid=12030">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=12030" ref="ncbi_uid=12030">V</a></span></span><span class="TLline"><a href="/medgen/12030" ref="tree=GTR&ncbi_uid=12030&link_uid=12030" title="View MedGen record for 'Neoplasm of uterus'">Neoplasm of uterus</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=C0014170[DISCUI]&test_type=Clinical" ref="ncbi_uid=8619">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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/8619" ref="tree=GTR&ncbi_uid=8619&link_uid=8619" title="View MedGen record for 'Endometrium neoplasm'">Endometrium neoplasm</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0007873[DISCUI]&test_type=Clinical" ref="ncbi_uid=40201">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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/40201" ref="tree=GTR&ncbi_uid=40201&link_uid=40201" title="View MedGen record for 'Neoplasm of uterine cervix'">Neoplasm of uterine cervix</a></span></li></ul></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 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"><a href="/medgen/91094" ref="tree=GTR&ncbi_uid=91094&link_uid=91094" title="View MedGen record for 'Oncocytoma of kidney'">Oncocytoma of kidney</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0919267[DISCUI]&test_type=Clinical" ref="ncbi_uid=181539">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=181539" ref="ncbi_uid=181539">V</a></span></span><span class="TLline"><a href="/medgen/181539" ref="tree=GTR&ncbi_uid=181539&link_uid=181539" title="View MedGen record for 'Ovarian neoplasm'">Ovarian neoplasm</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=C1333992[DISCUI]&test_type=Clinical" ref="ncbi_uid=272713">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=272713" ref="ncbi_uid=272713">V</a></span></span><span class="TLline"><a href="/medgen/272713" ref="tree=GTR&ncbi_uid=272713&link_uid=272713" title="View MedGen record for 'Familial ovarian carcinoma'">Familial ovarian carcinoma</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1140680[DISCUI]&test_type=Clinical" ref="ncbi_uid=216027">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=216027" target="_blank" href="/omim/167000">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=216027" ref="ncbi_uid=216027">V</a></span></span><span class="TLline"><a href="/medgen/216027" ref="tree=GTR&ncbi_uid=216027&link_uid=216027" title="View MedGen record for 'Ovarian cancer'">Ovarian cancer</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1868358[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=358303">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=358303" target="_blank" href="/omim/171834">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=358303" ref="ncbi_uid=358303">V</a></span></span><span class="TLline"><a href="/medgen/358303" ref="tree=GTR&ncbi_uid=358303&link_uid=358303" title="View MedGen record for 'OVARIAN CANCER, EPITHELIAL, SOMATIC'">OVARIAN CANCER, EPITHELIAL, SOMATIC</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=C1336839[DISCUI]&test_type=Clinical" ref="ncbi_uid=237026">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=237026" target="_blank" href="/omim/164860">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=237026" ref="ncbi_uid=237026">V</a></span></span><span class="TLline"><a href="/medgen/237026" ref="tree=GTR&ncbi_uid=237026&link_uid=237026" title="View MedGen record for 'Papillary renal cell carcinoma type 1'">Papillary renal cell carcinoma type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1266142[DISCUI]&test_type=Clinical" ref="ncbi_uid=690113">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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/690113" ref="tree=GTR&ncbi_uid=690113&link_uid=690113" title="View MedGen record for 'Renal hamartoma'">Renal hamartoma</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/272508" ref="tree=MeSH" title="MedGen record for Connective and Soft Tissue Disorder">Connective and Soft Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/60224" ref="tree=MeSH" title="MedGen record for Connective and soft tissue neoplasm">Connective and soft tissue neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/61646" ref="tree=MeSH" title="MedGen record for Lipomatous tumor">Lipomatous tumor</a></span><ul><li><span class="TLline"><a href="/medgen/64622" ref="tree=MeSH" title="MedGen record for Angiomyolipoma">Angiomyolipoma</a></span><ul><li><span class="matched_ds">Kidney angiomyolipoma</span><ul><li><span class="TLline"><a href="/medgen/272468" ref="tree=MeSH" title="MedGen record for Childhood kidney angiomyolipoma">Childhood kidney angiomyolipoma</a></span></li><li><span class="TLline"><a href="/medgen/1677196" ref="tree=MeSH" title="MedGen record for Kidney Epithelioid Angiomyolipoma">Kidney Epithelioid Angiomyolipoma</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<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>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_140768"><div><strong>Hyperimmunoglobulin D with periodic fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140768</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.">C0398691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often.\n\nMevalonate kinase deficiency has additional signs and symptoms, and the severity depends on the type of the condition. There are two types of mevalonate kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA).\n\nDuring episodes of fever, people with HIDS typically have enlargement of the lymph nodes (lymphadenopathy), abdominal pain, joint pain, diarrhea, skin rashes, and headache. Occasionally they will have painful sores called aphthous ulcers around their mouth. In females, these may also occur around the vagina. Rarely, people with HIDS develop a buildup of protein deposits (amyloidosis) in the kidneys that can lead to kidney failure. Fever episodes in individuals with HIDS can be triggered by vaccinations, surgery, injury, or stress. Most people with HIDS have abnormally high levels of immune system proteins called immunoglobulin D (IgD) and immunoglobulin A (IgA) in the blood. It is unclear why some people with HIDS have high levels of IgD and IgA and some do not. Elevated levels of these immunoglobulins do not appear to cause any signs or symptoms. Individuals with HIDS do not have any signs and symptoms of the condition between fever episodes and typically have a normal life expectancy.\n\nPeople with MVA have signs and symptoms of the condition at all times, not just during episodes of fever. Affected children have developmental delay, problems with movement and balance (ataxia), recurrent seizures (epilepsy), progressive problems with vision, and failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MVA typically have an unusually small, elongated head. In childhood or adolescence, affected individuals may develop eye problems such as inflammation of the eye (uveitis), a blue tint in the white part of the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the lens of the eye (cataracts). Affected adults may have short stature and may develop muscle weakness (myopathy) later in life. During fever episodes, people with MVA may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, and skin rashes. Children with MVA who are severely affected with multiple problems may live only into early childhood; mildly affected individuals may have a normal life expectancy.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/140768">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_325000"><div><strong>Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325000</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.">C1838327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Disease with characteristics of early-onset severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). A contiguous gene syndrome caused by a large deletion involving both the PKD1 and TSC2 genes (16p13.3). Transmission is autosomal dominant.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/325000">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_344288"><div><strong>Tuberous sclerosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344288</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.">C1854465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC-associated neuropsychiatric disorder [TAND]); kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system-related problems (including TAND) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/344288">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_348170"><div><strong>Tuberous sclerosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348170</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.">C1860707</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC-associated neuropsychiatric disorder [TAND]); kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system-related problems (including TAND) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/348170">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_373469"><div><strong>Multiple endocrine neoplasia type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373469</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.">C1970712</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Multiple endocrine neoplasia type 4 (MEN4) is characterized by the development of endocrine tumors, especially those involving the parathyroid and/or pituitary gland. Parathyroid adenomas and parathyroid hyperplasia manifest as hypercalcemia (primary hyperparathyroidism) as a result of the overproduction of parathyroid hormone. Anterior pituitary adenomas can secrete adrenocorticotrophic hormone (ACTH), growth hormone (GH), prolactin, or are nonfunctional (nonsecreting) adenomas. Well-differentiated endocrine tumors of the gastroenteropancreatic tract, carcinoid tumors, and adrenocortical tumors can also occur.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/373469">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325000" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140768" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperimmunoglobulin D with periodic fever</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple endocrine neoplasia type 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tuberous sclerosis 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348170" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tuberous sclerosis 2</a></div></div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/26612197">Update on the Diagnosis and Management of Renal Angiomyolipoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Flum AS,
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Hamoui N,
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Said MA,
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Yang XJ,
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Casalino DD,
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McGuire BB,
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Perry KT,
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Nadler RB</span><br />
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<span class="medgenPMjournal">J Urol</span>
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2016 Apr;195(4 Pt 1):834-46.
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Epub 2015 Nov 21
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doi: 10.1016/j.juro.2015.07.126.
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<span class="bold">PMID: </span><a href="/pubmed/26612197" target="_blank">26612197</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22kidney%20angiomyolipoma%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 (1)</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/26612197">Update on the Diagnosis and Management of Renal Angiomyolipoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flum AS,
|
||
Hamoui N,
|
||
Said MA,
|
||
Yang XJ,
|
||
Casalino DD,
|
||
McGuire BB,
|
||
Perry KT,
|
||
Nadler RB</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
2016 Apr;195(4 Pt 1):834-46.
|
||
Epub 2015 Nov 21
|
||
doi: 10.1016/j.juro.2015.07.126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26612197" target="_blank">26612197</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23127572">The role of vascular endothelial growth factor-D in diagnosis of lymphangioleiomyomatosis (LAM).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu KF,
|
||
Zhang P,
|
||
Tian X,
|
||
Ma A,
|
||
Li X,
|
||
Zhou J,
|
||
Zeng N,
|
||
Gui YS,
|
||
Guo Z,
|
||
Feng R,
|
||
Zhang W,
|
||
Sun W,
|
||
Cai B</span><br />
|
||
<span class="medgenPMjournal">Respir Med</span>
|
||
2013 Feb;107(2):263-8.
|
||
Epub 2012 Nov 3
|
||
doi: 10.1016/j.rmed.2012.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23127572" target="_blank">23127572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23193847">Bilateral diaphragmatic paralysis after kidney surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sozzo S,
|
||
Carratù P,
|
||
Damiani MF,
|
||
Falcone VA,
|
||
Palumbo A,
|
||
Dragonieri S,
|
||
Resta O</span><br />
|
||
<span class="medgenPMjournal">Monaldi Arch Chest Dis</span>
|
||
2012 Jun;77(2):102-4.
|
||
doi: 10.4081/monaldi.2012.158.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23193847" target="_blank">23193847</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17018483">Rapid growth of a kidney angiomyolipoma after initiation of oral contraceptive therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gould Rothberg BE,
|
||
Grooms MC,
|
||
Dharnidharka VR</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2006 Sep;108(3 Pt 2):734-6.
|
||
doi: 10.1097/01.AOG.0000188062.13749.ef.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17018483" target="_blank">17018483</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15943399">Cadaveric kidney transplant complicated by rupture of native kidney angiomyolipoma: a case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garcia-Covarrubias L,
|
||
McGee J,
|
||
Landes J,
|
||
Florman SS,
|
||
Slakey DP</span><br />
|
||
<span class="medgenPMjournal">Am Surg</span>
|
||
2005 Apr;71(4):286-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15943399" target="_blank">15943399</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kidney%20angiomyolipoma%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31610670">Lymphangioleiomyomatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Doubková M,
|
||
Štefániková M,
|
||
Čan V,
|
||
Merta Z,
|
||
Svoboda M</span><br />
|
||
<span class="medgenPMjournal">Klin Onkol</span>
|
||
2019 Fall;32(5):367-374.
|
||
doi: 10.14735/amko2019367.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31610670" target="_blank">31610670</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26612197">Update on the Diagnosis and Management of Renal Angiomyolipoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flum AS,
|
||
Hamoui N,
|
||
Said MA,
|
||
Yang XJ,
|
||
Casalino DD,
|
||
McGuire BB,
|
||
Perry KT,
|
||
Nadler RB</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
2016 Apr;195(4 Pt 1):834-46.
|
||
Epub 2015 Nov 21
|
||
doi: 10.1016/j.juro.2015.07.126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26612197" target="_blank">26612197</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23413089">Tuberous sclerosis complex-associated kidney angiomyolipoma: from contemplation to action.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pirson Y</span><br />
|
||
<span class="medgenPMjournal">Nephrol Dial Transplant</span>
|
||
2013 Jul;28(7):1680-5.
|
||
Epub 2013 Feb 14
|
||
doi: 10.1093/ndt/gft009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23413089" target="_blank">23413089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23193847">Bilateral diaphragmatic paralysis after kidney surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sozzo S,
|
||
Carratù P,
|
||
Damiani MF,
|
||
Falcone VA,
|
||
Palumbo A,
|
||
Dragonieri S,
|
||
Resta O</span><br />
|
||
<span class="medgenPMjournal">Monaldi Arch Chest Dis</span>
|
||
2012 Jun;77(2):102-4.
|
||
doi: 10.4081/monaldi.2012.158.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23193847" target="_blank">23193847</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15943399">Cadaveric kidney transplant complicated by rupture of native kidney angiomyolipoma: a case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garcia-Covarrubias L,
|
||
McGee J,
|
||
Landes J,
|
||
Florman SS,
|
||
Slakey DP</span><br />
|
||
<span class="medgenPMjournal">Am Surg</span>
|
||
2005 Apr;71(4):286-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15943399" target="_blank">15943399</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kidney%20angiomyolipoma%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 (11)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26259610">Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sasongko TH,
|
||
Ismail NF,
|
||
Nik Abdul Malik NM,
|
||
Zabidi-Hussin ZA</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2015 Aug 12;10:95.
|
||
doi: 10.1186/s13023-015-0317-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26259610" target="_blank">26259610</a><a href="/pmc/articles/PMC4531483" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23437092">Similar trends in serum VEGF-D levels and kidney angiomyolipoma responses with longer duration sirolimus treatment in adults with tuberous sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malinowska IA,
|
||
Lee N,
|
||
Kumar V,
|
||
Thiele EA,
|
||
Franz DN,
|
||
Ashwal S,
|
||
Sagalowsky A,
|
||
Dimario FJ Jr,
|
||
Cutler D,
|
||
Krueger D,
|
||
Camposano S,
|
||
Paolini J,
|
||
Dabora SL</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2013;8(2):e56199.
|
||
Epub 2013 Feb 20
|
||
doi: 10.1371/journal.pone.0056199.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23437092" target="_blank">23437092</a><a href="/pmc/articles/PMC3577773" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23413089">Tuberous sclerosis complex-associated kidney angiomyolipoma: from contemplation to action.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pirson Y</span><br />
|
||
<span class="medgenPMjournal">Nephrol Dial Transplant</span>
|
||
2013 Jul;28(7):1680-5.
|
||
Epub 2013 Feb 14
|
||
doi: 10.1093/ndt/gft009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23413089" target="_blank">23413089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23193847">Bilateral diaphragmatic paralysis after kidney surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sozzo S,
|
||
Carratù P,
|
||
Damiani MF,
|
||
Falcone VA,
|
||
Palumbo A,
|
||
Dragonieri S,
|
||
Resta O</span><br />
|
||
<span class="medgenPMjournal">Monaldi Arch Chest Dis</span>
|
||
2012 Jun;77(2):102-4.
|
||
doi: 10.4081/monaldi.2012.158.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23193847" target="_blank">23193847</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15943399">Cadaveric kidney transplant complicated by rupture of native kidney angiomyolipoma: a case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garcia-Covarrubias L,
|
||
McGee J,
|
||
Landes J,
|
||
Florman SS,
|
||
Slakey DP</span><br />
|
||
<span class="medgenPMjournal">Am Surg</span>
|
||
2005 Apr;71(4):286-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15943399" target="_blank">15943399</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kidney%20angiomyolipoma%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31610670">Lymphangioleiomyomatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Doubková M,
|
||
Štefániková M,
|
||
Čan V,
|
||
Merta Z,
|
||
Svoboda M</span><br />
|
||
<span class="medgenPMjournal">Klin Onkol</span>
|
||
2019 Fall;32(5):367-374.
|
||
doi: 10.14735/amko2019367.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31610670" target="_blank">31610670</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23193847">Bilateral diaphragmatic paralysis after kidney surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sozzo S,
|
||
Carratù P,
|
||
Damiani MF,
|
||
Falcone VA,
|
||
Palumbo A,
|
||
Dragonieri S,
|
||
Resta O</span><br />
|
||
<span class="medgenPMjournal">Monaldi Arch Chest Dis</span>
|
||
2012 Jun;77(2):102-4.
|
||
doi: 10.4081/monaldi.2012.158.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23193847" target="_blank">23193847</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22941884">Lymphatics in lymphangioleiomyomatosis and idiopathic pulmonary fibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glasgow CG,
|
||
El-Chemaly S,
|
||
Moss J</span><br />
|
||
<span class="medgenPMjournal">Eur Respir Rev</span>
|
||
2012 Sep 1;21(125):196-206.
|
||
doi: 10.1183/09059180.00009311.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22941884" target="_blank">22941884</a><a href="/pmc/articles/PMC4241262" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15943399">Cadaveric kidney transplant complicated by rupture of native kidney angiomyolipoma: a case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garcia-Covarrubias L,
|
||
McGee J,
|
||
Landes J,
|
||
Florman SS,
|
||
Slakey DP</span><br />
|
||
<span class="medgenPMjournal">Am Surg</span>
|
||
2005 Apr;71(4):286-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15943399" target="_blank">15943399</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kidney%20angiomyolipoma%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31610670">Lymphangioleiomyomatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Doubková M,
|
||
Štefániková M,
|
||
Čan V,
|
||
Merta Z,
|
||
Svoboda M</span><br />
|
||
<span class="medgenPMjournal">Klin Onkol</span>
|
||
2019 Fall;32(5):367-374.
|
||
doi: 10.14735/amko2019367.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31610670" target="_blank">31610670</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23437092">Similar trends in serum VEGF-D levels and kidney angiomyolipoma responses with longer duration sirolimus treatment in adults with tuberous sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malinowska IA,
|
||
Lee N,
|
||
Kumar V,
|
||
Thiele EA,
|
||
Franz DN,
|
||
Ashwal S,
|
||
Sagalowsky A,
|
||
Dimario FJ Jr,
|
||
Cutler D,
|
||
Krueger D,
|
||
Camposano S,
|
||
Paolini J,
|
||
Dabora SL</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2013;8(2):e56199.
|
||
Epub 2013 Feb 20
|
||
doi: 10.1371/journal.pone.0056199.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23437092" target="_blank">23437092</a><a href="/pmc/articles/PMC3577773" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21915260">Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF- D levels decrease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dabora SL,
|
||
Franz DN,
|
||
Ashwal S,
|
||
Sagalowsky A,
|
||
DiMario FJ Jr,
|
||
Miles D,
|
||
Cutler D,
|
||
Krueger D,
|
||
Uppot RN,
|
||
Rabenou R,
|
||
Camposano S,
|
||
Paolini J,
|
||
Fennessy F,
|
||
Lee N,
|
||
Woodrum C,
|
||
Manola J,
|
||
Garber J,
|
||
Thiele EA</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2011;6(9):e23379.
|
||
Epub 2011 Sep 6
|
||
doi: 10.1371/journal.pone.0023379.
|
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<span class="bold">PMID: </span><a href="/pubmed/21915260" target="_blank">21915260</a><a href="/pmc/articles/PMC3167813" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kidney%20angiomyolipoma%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sasongko TH,
|
||
Ismail NF,
|
||
Nik Abdul Malik NM,
|
||
Zabidi-Hussin ZA</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
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2015 Aug 12;10:95.
|
||
doi: 10.1186/s13023-015-0317-7.
|
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<span class="bold">PMID: </span><a href="/pubmed/26259610" target="_blank">26259610</a><a href="/pmc/articles/PMC4531483" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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