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<meta name="keywords" content="C1708350, cutaneous leiomyomata with uterine leiomyomata, familial leiomyomatosis, familial leiomyomatosis and renal cell cancer, familial leiomyomatosis cutis et uteri, familial leiomyomatosis with renal carcinoma, familial multiple cutaneous leiomyomas, fh, fh deficiency, hereditary leiomyomatosis, hereditary leiomyomatosis and renal cell cancer, hereditary leiomyomatosis and renal cell cancer syndrome, hereditary leiomyomatosis and renal cell carcinoma, hereditary leiomyomatosis and renal cell carcinoma syndrome, hereditary leiomyomatosis with renal carcinoma, hereditary multiple cutaneous leiomyomas, hlrcc, hlrcc - hereditary leiomyomatosis and renal cell cancer, leiomyoma, hereditary multiple, of skin, leiomyoma, multiple cutaneous, leiomyomatosis and renal cell cancer, leiomyomatosis and renal cell cancer, hereditary, leiomyomatosis familial, lrcc, mcl, mcul, mcul1, multiple cutaneous and uterine leiomyomas, multiple cutaneous and uterine leiomyomata, multiple cutaneous and uterine leiomyomata 1, multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma, multiple cutaneous and uterine leiomyomatosis, multiple cutaneous leiomyomas, multiple cutaneous leiomyomata, neoplastic process, reed syndrome, reed's syndrome, 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="FH tumor predisposition syndrome is characterized by cutaneous leiomyomata, uterine leiomyomata (fibroids), and/or renal tumors. Pheochromocytoma and paraganglioma have also been described in a small number of families. Cutaneous leiomyomata appear as skin-colored to light brown papules or nodules distributed over the trunk and extremities, and occasionally on the face, and appear at a mean age of 30 years, increasing in size and number with age. Uterine leiomyomata tend to be numerous and large; age at diagnosis ranges from 18 to 53 years, with most women experiencing irregular or heavy menstruation and pelvic pain. Renal tumors are usually unilateral, solitary, and aggressive. They are associated with poor survival due to clinical aggressiveness and propensity to metastasize despite small primary tumor size. The median age of detection is approximately age 40 years." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=353771
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ConceptID=C1708350
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hereditary leiomyomatosis and renal cell cancer<span class="h1sub">(MCL; MCUL1; HLRCC; LRCC)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>353771</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1708350</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Cutaneous leiomyomata with uterine leiomyomata; Familial leiomyomatosis; Leiomyoma, hereditary multiple, of skin; LEIOMYOMA, MULTIPLE CUTANEOUS; Multiple cutaneous and uterine leiomyomata; MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA; Multiple cutaneous and uterine leiomyomatosis; Multiple cutaneous leiomyomas; Reed syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>HLRCC - hereditary leiomyomatosis and renal cell cancer (1162799008); Familial leiomyomatosis with renal carcinoma (1162799008); Hereditary leiomyomatosis with renal carcinoma (1162799008); Familial leiomyomatosis and renal cell cancer (1162799008); Hereditary leiomyomatosis and renal cell carcinoma (1162799008); Hereditary leiomyomatosis and renal cell cancer (1162799008)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="FH - ID: 2271 - NCBI Gene" href="/gene/2271" class="medgenPMinfo">FH</a> (1q43)</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:0007437">HP:0007437</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007888" target="_blank">MONDO:0007888</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/150800" target="_blank">150800</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=523">ORPHA523</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1252" target="_blank">FH Tumor Predisposition Syndrome</a></div><div>FH tumor predisposition syndrome is characterized by cutaneous leiomyomata, uterine leiomyomata (fibroids), and/or renal tumors. Pheochromocytoma and paraganglioma have also been described in a small number of families. Cutaneous leiomyomata appear as skin-colored to light brown papules or nodules distributed over the trunk and extremities, and occasionally on the face, and appear at a mean age of 30 years, increasing in size and number with age. Uterine leiomyomata tend to be numerous and large; age at diagnosis ranges from 18 to 53 years, with most women experiencing irregular or heavy menstruation and pelvic pain. Renal tumors are usually unilateral, solitary, and aggressive. They are associated with poor survival due to clinical aggressiveness and propensity to metastasize despite small primary tumor size. The median age of detection is approximately age 40 years. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1252#hlrcc.Summary" target="NBK1252">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1252#hlrcc.Diagnosis" target="NBK1252">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1252#hlrcc.Clinical_Characteristics" target="NBK1252">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1252#hlrcc.Genetically_Related_Allelic_Disord" target="NBK1252">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1252#hlrcc.Differential_Diagnosis" target="NBK1252">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1252#hlrcc.Management" target="NBK1252">Management</a> | <a class="medgenPMinfo" href="/books/NBK1252#hlrcc.Genetic_Counseling" target="NBK1252">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1252#hlrcc.Resources" target="NBK1252">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1252#hlrcc.Molecular_Genetics" target="NBK1252">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1252#hlrcc.Chapter_Notes" target="NBK1252">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1252#hlrcc.References" target="NBK1252">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Junne Kamihara | Kris Ann Schultz | Huma Q Rana <a href="/books/NBK1252" target="NBK1252" title="NCBI Bookshelf: FH Tumor Predisposition Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition syndrome characterized by the variable development of 3 tumors: cutaneous piloleiomyomata that develop in essentially all patients by age 40 years; leiomyomata (fibroids) of the uterus, and rarely leiomyosarcomas, at a mean age of 30 years (range, 18 to 52 years); and type 2 papillary renal cell carcinoma at a mean age of 46 years (range, 17 to 75 years), which occurs in about 20% of patients. Type 2 papillary renal cell carcinoma is a pathologic subtype characterized by large tumor cells with eosinophilic cytoplasm and pseudostratified nuclei; it shows an aggressive clinical course. Some patients with FH mutations may develop collecting duct renal cell carcinoma. The main focus of management in HLRCC is prevention of disease and death due to renal cancer (summary by Gardie et al., 2011; Smit et al., 2011; and Lehtonen, 2011).
|
||
For a general discussion of papillary renal cell carcinoma, see RCCP1 (605074). <a target="_blank" href="http://www.omim.org/entry/150800">http://www.omim.org/entry/150800</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer.<br /><br />In this disorder, growths on the skin (cutaneous leiomyomas) typically develop in the third decade of life. Most of these growths arise from the tiny muscles around the hair follicles that cause "goosebumps". They appear as bumps or nodules on the trunk, arms, legs, and occasionally on the face. Cutaneous leiomyomas may be the same color as the surrounding skin, or they may be darker. Some affected individuals have no cutaneous leiomyomas or only a few, but the growths tend to increase in size and number over time. Cutaneous leiomyomas are often more sensitive than the surrounding skin to cold or light touch, and may be painful.<br /><br />Most women with HLRCC also develop uterine leiomyomas (fibroids). While uterine fibroids are very common in the general population, women with HLRCC tend to have numerous large fibroids that appear earlier than in the general population.<br /><br />Approximately 10 percent to 16 percent of people with HLRCC develop a type of kidney cancer called renal cell cancer. The signs and symptoms of renal cell cancer may include lower back pain, blood in the urine, or a mass in the kidney that can be felt upon physical examination. Some people with renal cell cancer have no symptoms until the disease is advanced. People with HLRCC are commonly diagnosed with kidney cancer in their forties.<br /><br />This disorder, especially if it appears in individuals or families without renal cell cancer, is also sometimes called multiple cutaneous leiomyomatosis (MCL) or multiple cutaneous and uterine leiomyomatosis (MCUL). <a target="_blank" href="https://medlineplus.gov/genetics/condition/hereditary-leiomyomatosis-and-renal-cell-cancer">https://medlineplus.gov/genetics/condition/hereditary-leiomyomatosis-and-renal-cell-cancer</a></div></div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_766"><div><strong>Renal cell carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766</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.">C0007134</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/766">Feature record</a> | <a href="/medgen?term=%22Renal%20cell%20carcinoma%22%5BClinical%20Features%5D%20OR%20766%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_21801"><div><strong>Uterine leiomyoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21801</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.">C0042133</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Uterine leiomyoma (UL), commonly known as fibroids, are benign tumors of the uterine myometrium. They represent the most prevalent pelvic tumors in women and are found in more than 75% of women of reproductive age. Approximately 20 to 25% of women with UL exhibit symptoms including menorrhagia, infertility, pelvic pain, and a range of complications during pregnancy. UL are the leading cause for hysterectomy in the United States, accounting for 30% of all hysterectomies (summary by Eggert et al., 2012).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/21801">Feature record</a> | <a href="/medgen?term=%22Uterine%20leiomyoma%22%5BClinical%20Features%5D%20OR%2021801%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_83679"><div><strong>Uterine leiomyosarcoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83679</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.">C0280631</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">The presence of a leiomyosarcoma of the uterus.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/83679">Feature record</a> | <a href="/medgen?term=%22Uterine%20leiomyosarcoma%22%5BClinical%20Features%5D%20OR%2083679%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_87533"><div><strong>Cutaneous leiomyoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87533</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.">C0346064</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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||
<div class="spaceAbove">The presence of leiomyoma of the skin.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/87533">Feature record</a> | <a href="/medgen?term=%22Cutaneous%20leiomyoma%22%5BClinical%20Features%5D%20OR%2087533%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_87534"><div><strong>Cutaneous leiomyosarcoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87534</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.">C0346067</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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||
<div class="spaceAbove">The presence of leiomyosarcoma of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87534">Feature record</a> | <a href="/medgen?term=%22Cutaneous%20leiomyosarcoma%22%5BClinical%20Features%5D%20OR%2087534%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_353771"><div><strong>Hereditary leiomyomatosis and renal cell cancer</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>353771</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1708350</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FH tumor predisposition syndrome is characterized by cutaneous leiomyomata, uterine leiomyomata (fibroids), and/or renal tumors. Pheochromocytoma and paraganglioma have also been described in a small number of families. Cutaneous leiomyomata appear as skin-colored to light brown papules or nodules distributed over the trunk and extremities, and occasionally on the face, and appear at a mean age of 30 years, increasing in size and number with age. Uterine leiomyomata tend to be numerous and large; age at diagnosis ranges from 18 to 53 years, with most women experiencing irregular or heavy menstruation and pelvic pain. Renal tumors are usually unilateral, solitary, and aggressive. They are associated with poor survival due to clinical aggressiveness and propensity to metastasize despite small primary tumor size. The median age of detection is approximately age 40 years.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/353771">Feature record</a> | <a href="/medgen?term=%22Hereditary%20leiomyomatosis%20and%20renal%20cell%20cancer%22%5BClinical%20Features%5D%20OR%20353771%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343007"><div><strong>Decreased fumarate hydratase activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343007</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.">C1853903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/343007">Feature record</a> | <a href="/medgen?term=%22Decreased%20fumarate%20hydratase%20activity%22%5BClinical%20Features%5D%20OR%20343007%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343007" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased fumarate hydratase activity</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87533" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutaneous leiomyoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutaneous leiomyosarcoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_353771" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary leiomyomatosis and renal cell cancer</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cell carcinoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21801" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Uterine leiomyoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83679" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Uterine leiomyosarcoma</a></span></li></ul></li></ul></div></div>
|
||
</div>
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|
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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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1708350[DISCUI]&test_type=Clinical" ref="ncbi_uid=353771">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=353771" target="_blank" href="/omim/136850">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1252/" ref="ncbi_uid=353771">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=353771" ref="ncbi_uid=353771">V</a></span></span><span class="TLline">Hereditary leiomyomatosis and renal cell cancer</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><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/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="TLline"><a href="/medgen/14326" ref="tree=MeSH" title="MedGen record for Hereditary cancer-predisposing syndrome">Hereditary cancer-predisposing syndrome</a></span><ul><li><span class="matched_ds">Hereditary leiomyomatosis and renal cell cancer</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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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">
|
||
<div class="divPopper rprt" id="rdis_353771"><div><strong>Hereditary leiomyomatosis and renal cell cancer</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>353771</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1708350</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FH tumor predisposition syndrome is characterized by cutaneous leiomyomata, uterine leiomyomata (fibroids), and/or renal tumors. Pheochromocytoma and paraganglioma have also been described in a small number of families. Cutaneous leiomyomata appear as skin-colored to light brown papules or nodules distributed over the trunk and extremities, and occasionally on the face, and appear at a mean age of 30 years, increasing in size and number with age. Uterine leiomyomata tend to be numerous and large; age at diagnosis ranges from 18 to 53 years, with most women experiencing irregular or heavy menstruation and pelvic pain. Renal tumors are usually unilateral, solitary, and aggressive. They are associated with poor survival due to clinical aggressiveness and propensity to metastasize despite small primary tumor size. The median age of detection is approximately age 40 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/353771">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_353771" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary leiomyomatosis and renal cell cancer</a></div></div>
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</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>
|
||
<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/36602871">Treatment Strategies for Hereditary Kidney Cancer: Current Recommendations and Updates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh S,
|
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Chaurasia A,
|
||
Gopal N,
|
||
Malayeri A,
|
||
Ball MW</span><br />
|
||
<span class="medgenPMjournal">Discov Med</span>
|
||
2022 Nov-Dec;34(173):205-220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36602871" target="_blank">36602871</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31917494">Treatment of three hereditary leiomyomatosis patients with cryotherapy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Uyar B,
|
||
Acar EM,
|
||
Subaşıoğlu A</span><br />
|
||
<span class="medgenPMjournal">Dermatol Ther</span>
|
||
2020 Mar;33(2):e13226.
|
||
Epub 2020 Jan 19
|
||
doi: 10.1111/dth.13226.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31917494" target="_blank">31917494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28662997">Next generation immunohistochemistry: Emerging substitutes to genetic testing?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andrici J,
|
||
Gill AJ,
|
||
Hornick JL</span><br />
|
||
<span class="medgenPMjournal">Semin Diagn Pathol</span>
|
||
2018 May;35(3):161-169.
|
||
Epub 2017 Jun 27
|
||
doi: 10.1053/j.semdp.2017.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28662997" target="_blank">28662997</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hereditary%20leiomyomatosis%20and%20renal%20cell%20cancer%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 (8)</a></div></div>
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</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_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389510">Genetics of Renal Cell Carcinoma (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389510" target="_blank">26389510</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389333">Genetics of Skin Cancer (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389333" target="_blank">26389333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389258">Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389258" target="_blank">26389258</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div><h3 class="subhead">External</h3><h3 class="nl vspace"><a href="https://www.cancer.gov/types/kidney/hp/renal-cell-carcinoma-genetics/hlrcc-syndrome" target="_blank">PDQ® Cancer Genetics Editorial Board. PDQ Hereditary Leiomyomatosis and Renal Cell Cancer. Bethesda, MD: National Cancer Institute. Updated <03/08/2021>. Accessed <05/05/2021>.</a></h3>
|
||
</div>
|
||
</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/37255402">FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilde BR,
|
||
Chakraborty N,
|
||
Matulionis N,
|
||
Hernandez S,
|
||
Ueno D,
|
||
Gee ME,
|
||
Esplin ED,
|
||
Ouyang K,
|
||
Nykamp K,
|
||
Shuch B,
|
||
Christofk HR</span><br />
|
||
<span class="medgenPMjournal">Cancer Discov</span>
|
||
2023 Sep 6;13(9):2072-2089.
|
||
doi: 10.1158/2159-8290.CD-22-0874.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37255402" target="_blank">37255402</a><a href="/pmc/articles/PMC10527600" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29680948">Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maher ER</span><br />
|
||
<span class="medgenPMjournal">World J Urol</span>
|
||
2018 Dec;36(12):1891-1898.
|
||
Epub 2018 Apr 21
|
||
doi: 10.1007/s00345-018-2288-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29680948" target="_blank">29680948</a><a href="/pmc/articles/PMC6280834" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26935559">The 2016 WHO Classification of Tumours of the Urinary System and Male Genital Organs-Part A: Renal, Penile, and Testicular Tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moch H,
|
||
Cubilla AL,
|
||
Humphrey PA,
|
||
Reuter VE,
|
||
Ulbright TM</span><br />
|
||
<span class="medgenPMjournal">Eur Urol</span>
|
||
2016 Jul;70(1):93-105.
|
||
Epub 2016 Feb 28
|
||
doi: 10.1016/j.eururo.2016.02.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26935559" target="_blank">26935559</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24359990">Hereditary kidney cancer syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haas NB,
|
||
Nathanson KL</span><br />
|
||
<span class="medgenPMjournal">Adv Chronic Kidney Dis</span>
|
||
2014 Jan;21(1):81-90.
|
||
doi: 10.1053/j.ackd.2013.10.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24359990" target="_blank">24359990</a><a href="/pmc/articles/PMC3872053" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16948378">Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stewart L,
|
||
Glenn G,
|
||
Toro JR</span><br />
|
||
<span class="medgenPMjournal">Dermatol Nurs</span>
|
||
2006 Aug;18(4):335-41; quiz 342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16948378" target="_blank">16948378</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20leiomyomatosis%20and%20renal%20cell%20cancer%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 (93)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37255402">FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilde BR,
|
||
Chakraborty N,
|
||
Matulionis N,
|
||
Hernandez S,
|
||
Ueno D,
|
||
Gee ME,
|
||
Esplin ED,
|
||
Ouyang K,
|
||
Nykamp K,
|
||
Shuch B,
|
||
Christofk HR</span><br />
|
||
<span class="medgenPMjournal">Cancer Discov</span>
|
||
2023 Sep 6;13(9):2072-2089.
|
||
doi: 10.1158/2159-8290.CD-22-0874.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37255402" target="_blank">37255402</a><a href="/pmc/articles/PMC10527600" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36764488">Hereditary Leiomyomatosis and Renal Cell Cancer: A Rare Case in a 22-Year-Old Female.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo F,
|
||
Wang H</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2023 May;175:e1-e3.
|
||
Epub 2023 Feb 8
|
||
doi: 10.1016/j.urology.2022.12.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36764488" target="_blank">36764488</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29196359">Inherited skin tumour syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown S,
|
||
Brennan P,
|
||
Rajan N</span><br />
|
||
<span class="medgenPMjournal">Clin Med (Lond)</span>
|
||
2017 Dec;17(6):562-567.
|
||
doi: 10.7861/clinmedicine.17-6-562.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29196359" target="_blank">29196359</a><a href="/pmc/articles/PMC6297702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26323704">Hereditary leiomyomatosis and renal cell cancer syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tulandi T,
|
||
Foulkes WD</span><br />
|
||
<span class="medgenPMjournal">CMAJ</span>
|
||
2016 Feb 2;188(2):140.
|
||
Epub 2015 Aug 31
|
||
doi: 10.1503/cmaj.150191.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26323704" target="_blank">26323704</a><a href="/pmc/articles/PMC4732967" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16948378">Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stewart L,
|
||
Glenn G,
|
||
Toro JR</span><br />
|
||
<span class="medgenPMjournal">Dermatol Nurs</span>
|
||
2006 Aug;18(4):335-41; quiz 342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16948378" target="_blank">16948378</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20leiomyomatosis%20and%20renal%20cell%20cancer%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 (159)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36302175">A Phase II Trial of Guadecitabine in Children and Adults with SDH-Deficient GIST, Pheochromocytoma, Paraganglioma, and HLRCC-Associated Renal Cell Carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ligon JA,
|
||
Sundby RT,
|
||
Wedekind MF,
|
||
Arnaldez FI,
|
||
Del Rivero J,
|
||
Wiener L,
|
||
Srinivasan R,
|
||
Spencer M,
|
||
Carbonell A,
|
||
Lei H,
|
||
Shern J,
|
||
Steinberg SM,
|
||
Figg WD,
|
||
Peer CJ,
|
||
Zimmerman S,
|
||
Moraly J,
|
||
Xu X,
|
||
Fox S,
|
||
Chan K,
|
||
Barbato MI,
|
||
Andresson T,
|
||
Taylor N,
|
||
Pacak K,
|
||
Killian JK,
|
||
Dombi E,
|
||
Linehan WM,
|
||
Miettinen M,
|
||
Piekarz R,
|
||
Helman LJ,
|
||
Meltzer P,
|
||
Widemann B,
|
||
Glod J</span><br />
|
||
<span class="medgenPMjournal">Clin Cancer Res</span>
|
||
2023 Jan 17;29(2):341-348.
|
||
doi: 10.1158/1078-0432.CCR-22-2168.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36302175" target="_blank">36302175</a><a href="/pmc/articles/PMC9851965" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32108620">Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma: Morphological appraisal with a comprehensive review of differential diagnoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Zaatari Z,
|
||
Divatia MK</span><br />
|
||
<span class="medgenPMjournal">Indian J Pathol Microbiol</span>
|
||
2020 Feb;63(Supplement):S7-S17.
|
||
doi: 10.4103/IJPM.IJPM_877_19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32108620" target="_blank">32108620</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25744129">Multiple painful nodules and uterine leiomyomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernández-Crehuet P,
|
||
Ruiz-Villaverde R</span><br />
|
||
<span class="medgenPMjournal">Mayo Clin Proc</span>
|
||
2015 Mar;90(3):423-4.
|
||
doi: 10.1016/j.mayocp.2014.07.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25744129" target="_blank">25744129</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25012257">Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menko FH,
|
||
Maher ER,
|
||
Schmidt LS,
|
||
Middelton LA,
|
||
Aittomäki K,
|
||
Tomlinson I,
|
||
Richard S,
|
||
Linehan WM</span><br />
|
||
<span class="medgenPMjournal">Fam Cancer</span>
|
||
2014 Dec;13(4):637-44.
|
||
doi: 10.1007/s10689-014-9735-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25012257" target="_blank">25012257</a><a href="/pmc/articles/PMC4574691" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24526232">Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong MH,
|
||
Tan CS,
|
||
Lee SC,
|
||
Yong Y,
|
||
Ooi AS,
|
||
Ngeow J,
|
||
Tan MH</span><br />
|
||
<span class="medgenPMjournal">Fam Cancer</span>
|
||
2014 Jun;13(2):281-9.
|
||
doi: 10.1007/s10689-014-9703-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24526232" target="_blank">24526232</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20leiomyomatosis%20and%20renal%20cell%20cancer%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 (19)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28662997">Next generation immunohistochemistry: Emerging substitutes to genetic testing?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andrici J,
|
||
Gill AJ,
|
||
Hornick JL</span><br />
|
||
<span class="medgenPMjournal">Semin Diagn Pathol</span>
|
||
2018 May;35(3):161-169.
|
||
Epub 2017 Jun 27
|
||
doi: 10.1053/j.semdp.2017.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28662997" target="_blank">28662997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29517197">Review of hereditary leiomyomatosis renal cell carcinoma with focus on clinical and pathobiological aspects of renal tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuroda N,
|
||
Ohe C,
|
||
Kato I,
|
||
Furuya M,
|
||
Baba M,
|
||
Nagashima Y,
|
||
Nakatani Y,
|
||
Murakami I,
|
||
Zhou M,
|
||
Michal M,
|
||
He O,
|
||
Amin MB</span><br />
|
||
<span class="medgenPMjournal">Pol J Pathol</span>
|
||
2017;68(4):284-290.
|
||
doi: 10.5114/pjp.2017.73920.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29517197" target="_blank">29517197</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25014245">Nephron-sparing surgery for multifocal and hereditary renal tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Metwalli AR,
|
||
Linehan WM</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Urol</span>
|
||
2014 Sep;24(5):466-73.
|
||
doi: 10.1097/MOU.0000000000000094.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25014245" target="_blank">25014245</a><a href="/pmc/articles/PMC4441729" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25012257">Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menko FH,
|
||
Maher ER,
|
||
Schmidt LS,
|
||
Middelton LA,
|
||
Aittomäki K,
|
||
Tomlinson I,
|
||
Richard S,
|
||
Linehan WM</span><br />
|
||
<span class="medgenPMjournal">Fam Cancer</span>
|
||
2014 Dec;13(4):637-44.
|
||
doi: 10.1007/s10689-014-9735-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25012257" target="_blank">25012257</a><a href="/pmc/articles/PMC4574691" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21398687">Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gardie B,
|
||
Remenieras A,
|
||
Kattygnarath D,
|
||
Bombled J,
|
||
Lefèvre S,
|
||
Perrier-Trudova V,
|
||
Rustin P,
|
||
Barrois M,
|
||
Slama A,
|
||
Avril MF,
|
||
Bessis D,
|
||
Caron O,
|
||
Caux F,
|
||
Collignon P,
|
||
Coupier I,
|
||
Cremin C,
|
||
Dollfus H,
|
||
Dugast C,
|
||
Escudier B,
|
||
Faivre L,
|
||
Field M,
|
||
Gilbert-Dussardier B,
|
||
Janin N,
|
||
Leport Y,
|
||
Leroux D,
|
||
Lipsker D,
|
||
Malthieu F,
|
||
McGilliwray B,
|
||
Maugard C,
|
||
Méjean A,
|
||
Mortemousque I,
|
||
Plessis G,
|
||
Poppe B,
|
||
Pruvost-Balland C,
|
||
Rooker S,
|
||
Roume J,
|
||
Soufir N,
|
||
Steinraths M,
|
||
Tan MH,
|
||
Théodore C,
|
||
Thomas L,
|
||
Vabres P,
|
||
Van Glabeke E,
|
||
Meric JB,
|
||
Verkarre V,
|
||
Lenoir G,
|
||
Joulin V,
|
||
Deveaux S,
|
||
Cusin V,
|
||
Feunteun J,
|
||
Teh BT,
|
||
Bressac-de Paillerets B,
|
||
Richard S;
|
||
French National Cancer Institute "Inherited predisposition to kidney cancer" network</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2011 Apr;48(4):226-34.
|
||
Epub 2011 Mar 12
|
||
doi: 10.1136/jmg.2010.085068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21398687" target="_blank">21398687</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20leiomyomatosis%20and%20renal%20cell%20cancer%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 (48)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38279137">Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sánchez-Heras AB,
|
||
Dámaso E,
|
||
Castillejo A,
|
||
Robledo M,
|
||
Teulé A,
|
||
Lázaro C,
|
||
Sánchez-Martínez R,
|
||
Zúñiga Á,
|
||
López-Fernández A,
|
||
Balmaña J,
|
||
Robles L,
|
||
Ramon Y Cajal T,
|
||
Castillejo MI,
|
||
Ibañez RP,
|
||
Sevila CM,
|
||
Sánchez-Mira A,
|
||
Escandell I,
|
||
Gómez L,
|
||
Berbel P,
|
||
Soto JL</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Jan 26;19(1):26.
|
||
doi: 10.1186/s13023-024-03017-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38279137" target="_blank">38279137</a><a href="/pmc/articles/PMC10811853" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28662997">Next generation immunohistochemistry: Emerging substitutes to genetic testing?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andrici J,
|
||
Gill AJ,
|
||
Hornick JL</span><br />
|
||
<span class="medgenPMjournal">Semin Diagn Pathol</span>
|
||
2018 May;35(3):161-169.
|
||
Epub 2017 Jun 27
|
||
doi: 10.1053/j.semdp.2017.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28662997" target="_blank">28662997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25012257">Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menko FH,
|
||
Maher ER,
|
||
Schmidt LS,
|
||
Middelton LA,
|
||
Aittomäki K,
|
||
Tomlinson I,
|
||
Richard S,
|
||
Linehan WM</span><br />
|
||
<span class="medgenPMjournal">Fam Cancer</span>
|
||
2014 Dec;13(4):637-44.
|
||
doi: 10.1007/s10689-014-9735-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25012257" target="_blank">25012257</a><a href="/pmc/articles/PMC4574691" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24526232">Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong MH,
|
||
Tan CS,
|
||
Lee SC,
|
||
Yong Y,
|
||
Ooi AS,
|
||
Ngeow J,
|
||
Tan MH</span><br />
|
||
<span class="medgenPMjournal">Fam Cancer</span>
|
||
2014 Jun;13(2):281-9.
|
||
doi: 10.1007/s10689-014-9703-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24526232" target="_blank">24526232</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21404119">Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lehtonen HJ</span><br />
|
||
<span class="medgenPMjournal">Fam Cancer</span>
|
||
2011 Jun;10(2):397-411.
|
||
doi: 10.1007/s10689-011-9428-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21404119" target="_blank">21404119</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20leiomyomatosis%20and%20renal%20cell%20cancer%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 (56)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/31326218">Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carlo MI,
|
||
Hakimi AA,
|
||
Stewart GD,
|
||
Bratslavsky G,
|
||
Brugarolas J,
|
||
Chen YB,
|
||
Linehan WM,
|
||
Maher ER,
|
||
Merino MJ,
|
||
Offit K,
|
||
Reuter VE,
|
||
Shuch B,
|
||
Coleman JA</span><br />
|
||
<span class="medgenPMjournal">Eur Urol</span>
|
||
2019 Dec;76(6):754-764.
|
||
Epub 2019 Jul 18
|
||
doi: 10.1016/j.eururo.2019.06.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31326218" target="_blank">31326218</a><a href="/pmc/articles/PMC7673107" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20leiomyomatosis%20and%20renal%20cell%20cancer%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1708350%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (55)</a></li>
|
||
<li><a href="/gtr/tests?term=C1708350%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C1708350%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1708350%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C1708350%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (64)</a></li>
|
||
<li><a href="/gtr/tests?term=C1708350%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (13)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1708350%5bDISCUI%5d" target="_blank">See all (82)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=150800" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=523" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hereditary%20leiomyomatosis%20and%20renal%20cell%20cancer" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hereditary%20leiomyomatosis%20and%20renal%20cell%20cancer%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Hereditary%20leiomyomatosis%20and%20renal%20cell%20cancer%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=136850" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2271[geneid]" target="_blank">View FH variations in ClinVar</a></li><li><a href="/nuccore/241666449" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=150800" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Leiomyomatosis+and+renal+cell+cancer%2C+hereditary/4161" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hereditary_leiomyomatosis_and_renal_cell_cancer" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hereditary%20leiomyomatosis%20and%20renal%20cell%20cancer" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/hereditary-leiomyomatosis-and-renal-cell-cancer" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301430" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Hereditary%20leiomyomatosis%20and%20renal%20cell%20cancer" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Hereditary%20leiomyomatosis%20and%20renal%20cell%20cancer%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=353771" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=353771" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1708350[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1708350[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=353771" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=353771" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=353771" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=353771" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=353771" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=353771" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=353771" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
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