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<meta name="keywords" content="CN375946, bhd1, birt-hogg-dube syndrome 1, disease or syndrome, fibrofolliculomas with trichodiscomas and acrochordons, flcn, hornstein-knickenberg 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="The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cysts), pulmonary cysts / history of pneumothorax, renal cysts, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear between the second and fourth decades of life and typically increase in size and number with age. Lung cysts are mainly in the basal lung regions; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Renal tumors can be bilateral and multifocal. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (oncocytic hybrid tumor); clear cell carcinoma and oncocytoma are also common." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1051978
|
||
ConceptID=CN375946
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Birt-Hogg-Dube syndrome 1<span class="h1sub">(BHD1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1051978</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN375946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>BHD1; FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS</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="FLCN - ID: 201163 - NCBI Gene" href="/gene/201163" class="medgenPMinfo">FLCN</a> (17p11.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0800445" target="_blank">MONDO:0800445</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/135150" target="_blank">135150</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/NBK1522" target="_blank">Birt-Hogg-Dubé Syndrome</a></div><div>The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cysts), pulmonary cysts / history of pneumothorax, renal cysts, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear between the second and fourth decades of life and typically increase in size and number with age. Lung cysts are mainly in the basal lung regions; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Renal tumors can be bilateral and multifocal. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (oncocytic hybrid tumor); clear cell carcinoma and oncocytoma are also common. [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/NBK1522#bhd.Summary" target="NBK1522">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1522#bhd.Diagnosis" target="NBK1522">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1522#bhd.Clinical_Characteristics" target="NBK1522">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1522#bhd.Genetically_Related_Allelic_Disorder" target="NBK1522">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1522#bhd.Differential_Diagnosis" target="NBK1522">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1522#bhd.Management" target="NBK1522">Management</a> | <a class="medgenPMinfo" href="/books/NBK1522#bhd.Genetic_Counseling" target="NBK1522">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1522#bhd.Resources" target="NBK1522">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1522#bhd.Molecular_Genetics" target="NBK1522">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1522#bhd.Chapter_Notes" target="NBK1522">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1522#bhd.References" target="NBK1522">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Elke C Sattler | Ortrud K Steinlein <a href="/books/NBK1522" target="NBK1522" title="NCBI Bookshelf: Birt-Hogg-Dubé Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<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>
|
||
<div class="spaceAbove">A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.</div>
|
||
<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>
|
||
<div class="divPopper rprt" id="clin_5967"><div><strong>Renal neoplasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5967</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.">C0022665</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a neoplasm of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5967">Feature record</a> | <a href="/medgen?term=%22Renal%20neoplasm%22%5BClinical%20Features%5D%20OR%205967%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_138032"><div><strong>Fibrofolliculoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138032</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.">C0346011</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138032">Feature record</a> | <a href="/medgen?term=%22Fibrofolliculoma%22%5BClinical%20Features%5D%20OR%20138032%5Buid%5D">Search on this feature</a></div></div>
|
||
<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>
|
||
<div class="spaceAbove">The presence of leiomyoma of the skin.</div>
|
||
<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>
|
||
<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>
|
||
<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_677074"><div><strong>Multiple lipomas</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>677074</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.">C0745730</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of multiple lipomas (a type of benign tissue made of fatty tissue).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/677074">Feature record</a> | <a href="/medgen?term=%22Multiple%20lipomas%22%5BClinical%20Features%5D%20OR%20677074%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854361"><div><strong>Renal cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854361</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.">C3887499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A fluid filled sac in the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854361">Feature record</a> | <a href="/medgen?term=%22Renal%20cyst%22%5BClinical%20Features%5D%20OR%20854361%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2839"><div><strong>Colon cancer</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2839</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.">C0007102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2839">Feature record</a> | <a href="/medgen?term=%22Colon%20cancer%22%5BClinical%20Features%5D%20OR%202839%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868164"><div><strong>Large intestinal polyposis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868164</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.">C4022556</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of multiple polyps in the large intestine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868164">Feature record</a> | <a href="/medgen?term=%22Large%20intestinal%20polyposis%22%5BClinical%20Features%5D%20OR%20868164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57701"><div><strong>Spontaneous pneumothorax</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57701</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.">C0149781</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pneumothorax occurring without traumatic injury to the chest or lung.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57701">Feature record</a> | <a href="/medgen?term=%22Spontaneous%20pneumothorax%22%5BClinical%20Features%5D%20OR%2057701%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_640840"><div><strong>Cystic disease of lung</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>640840</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.">C0555214</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polycystic lung disease (PCLUD) is an autosomal recessive disorder characterized by childhood-onset exertional dyspnea and cough due to progressive airflow obstruction in the lungs. Pulmonary imaging shows diffuse lung disease with pleural and subpleural cysts and peripheral consolidations, and lung biopsy shows bronchiolitis and lymphocytosis of the terminal bronchioles, often with features of pulmonary alveolar proteinosis (PAP). Most affected individuals have recurrent respiratory infections; some have an adverse response to BCG vaccination. Additional features may include digital clubbing, allergies, and atopic dermatitis (et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/640840">Feature record</a> | <a href="/medgen?term=%22Cystic%20disease%20of%20lung%22%5BClinical%20Features%5D%20OR%20640840%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98352"><div><strong>Sebaceous hyperplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98352</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.">C0406484</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98352">Feature record</a> | <a href="/medgen?term=%22Sebaceous%20hyperplasia%22%5BClinical%20Features%5D%20OR%2098352%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_352818"><div><strong>Trichodiscoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>352818</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.">C1704237</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/352818">Feature record</a> | <a href="/medgen?term=%22Trichodiscoma%22%5BClinical%20Features%5D%20OR%20352818%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 the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2839" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colon cancer</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Large intestinal polyposis</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cyst</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sebaceous hyperplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_352818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichodiscoma</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_640840" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cystic disease of lung</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57701" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spontaneous pneumothorax</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_138032" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fibrofolliculoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_677074" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple lipomas</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_5967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal neoplasm</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet 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/1830278" ref="tree=GTR&ncbi_uid=1830278&link_uid=1830278" title="View MedGen record for 'Multiple fibrofolliculomas'">Multiple fibrofolliculomas</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=C0346010[DISCUI]&test_type=Clinical" ref="ncbi_uid=91070">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=91070" target="_blank" href="/omim/135150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1522/" ref="ncbi_uid=91070">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=91070" ref="ncbi_uid=91070">V</a></span></span><span class="TLline"><a href="/medgen/91070" ref="tree=GTR&ncbi_uid=91070&link_uid=91070" title="View MedGen record for 'Birt-Hogg-Dube syndrome'">Birt-Hogg-Dube syndrome</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1522/" ref="ncbi_uid=1051978">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1051978" ref="ncbi_uid=1051978">V</a></span></span><span class="TLline">Birt-Hogg-Dube syndrome 1</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=1841312" target="_blank" href="/omim/618319">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/1841312" ref="tree=GTR&ncbi_uid=1841312&link_uid=1841312" title="View MedGen record for 'Birt-Hogg-Dube syndrome 2'">Birt-Hogg-Dube syndrome 2</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/908923" ref="tree=MeSH" title="MedGen record for Ciliopathy">Ciliopathy</a></span><ul><li><span class="TLline"><a href="/medgen/91070" ref="tree=MeSH" title="MedGen record for Birt-Hogg-Dube syndrome">Birt-Hogg-Dube syndrome</a></span><ul><li><span class="matched_ds">Birt-Hogg-Dube syndrome 1</span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38182428">Diagnosis of cystic lung diseases: a position statement from the UK Cystic Lung Disease Rare Disease Collaborative Network.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson SR,
|
||
Shaw DE,
|
||
Avoseh M,
|
||
Soomro I,
|
||
Pointon KS,
|
||
Kokosi M,
|
||
Nicholson AG,
|
||
Desai SR,
|
||
George PM</span><br />
|
||
<span class="medgenPMjournal">Thorax</span>
|
||
2024 Mar 15;79(4):366-377.
|
||
doi: 10.1136/thorax-2022-219738.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38182428" target="_blank">38182428</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29974615">Management of primary spontaneous pneumothorax: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong A,
|
||
Galiabovitch E,
|
||
Bhagwat K</span><br />
|
||
<span class="medgenPMjournal">ANZ J Surg</span>
|
||
2019 Apr;89(4):303-308.
|
||
Epub 2018 Jul 5
|
||
doi: 10.1111/ans.14713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29974615" target="_blank">29974615</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19959076">Birt-Hogg-Dubé syndrome: diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menko FH,
|
||
van Steensel MA,
|
||
Giraud S,
|
||
Friis-Hansen L,
|
||
Richard S,
|
||
Ungari S,
|
||
Nordenskjöld M,
|
||
Hansen TV,
|
||
Solly J,
|
||
Maher ER;
|
||
European BHD Consortium</span><br />
|
||
<span class="medgenPMjournal">Lancet Oncol</span>
|
||
2009 Dec;10(12):1199-206.
|
||
doi: 10.1016/S1470-2045(09)70188-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19959076" target="_blank">19959076</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(birt-hogg-dube%20syndrome%201)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (22)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37258351">Hereditary Renal Cell Carcinoma Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carlo MI</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
2023 Oct;37(5):841-848.
|
||
Epub 2023 May 29
|
||
doi: 10.1016/j.hoc.2023.04.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37258351" target="_blank">37258351</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36737165">Cystic lung disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cabeza Martínez B,
|
||
Giménez Palleiro A,
|
||
Mazzini Florindez SP</span><br />
|
||
<span class="medgenPMjournal">Radiologia (Engl Ed)</span>
|
||
2022 Dec;64 Suppl 3:265-276.
|
||
doi: 10.1016/j.rxeng.2022.09.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36737165" target="_blank">36737165</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29974615">Management of primary spontaneous pneumothorax: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong A,
|
||
Galiabovitch E,
|
||
Bhagwat K</span><br />
|
||
<span class="medgenPMjournal">ANZ J Surg</span>
|
||
2019 Apr;89(4):303-308.
|
||
Epub 2018 Jul 5
|
||
doi: 10.1111/ans.14713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29974615" target="_blank">29974615</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24342705">Cystic lung disease: achieving a radiologic diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trotman-Dickenson B</span><br />
|
||
<span class="medgenPMjournal">Eur J Radiol</span>
|
||
2014 Jan;83(1):39-46.
|
||
Epub 2013 Dec 4
|
||
doi: 10.1016/j.ejrad.2013.11.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24342705" target="_blank">24342705</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19841421">Dermoscopic features of Birt-Hogg-Dube syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jarrett R,
|
||
Walker L,
|
||
Side L,
|
||
Bowling J</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
2009 Oct;145(10):1208.
|
||
doi: 10.1001/archdermatol.2009.211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19841421" target="_blank">19841421</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Birt-Hogg-Dube%20syndrome%201%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 (169)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34846202">Birt-Hogg-Dubé Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghosh S,
|
||
Farver CF</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
2022 Mar;302(3):514.
|
||
Epub 2021 Nov 30
|
||
doi: 10.1148/radiol.2021211972.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34846202" target="_blank">34846202</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29974615">Management of primary spontaneous pneumothorax: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong A,
|
||
Galiabovitch E,
|
||
Bhagwat K</span><br />
|
||
<span class="medgenPMjournal">ANZ J Surg</span>
|
||
2019 Apr;89(4):303-308.
|
||
Epub 2018 Jul 5
|
||
doi: 10.1111/ans.14713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29974615" target="_blank">29974615</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29669049">Familial Birt-Hogg-Dubé syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McDermott C,
|
||
Cullen J</span><br />
|
||
<span class="medgenPMjournal">QJM</span>
|
||
2018 Aug 1;111(8):565-566.
|
||
doi: 10.1093/qjmed/hcy079.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29669049" target="_blank">29669049</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27180915">Cystic Lung Diseases: Algorithmic Approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raoof S,
|
||
Bondalapati P,
|
||
Vydyula R,
|
||
Ryu JH,
|
||
Gupta N,
|
||
Raoof S,
|
||
Galvin J,
|
||
Rosen MJ,
|
||
Lynch D,
|
||
Travis W,
|
||
Mehta S,
|
||
Lazzaro R,
|
||
Naidich D</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2016 Oct;150(4):945-965.
|
||
Epub 2016 May 13
|
||
doi: 10.1016/j.chest.2016.04.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27180915" target="_blank">27180915</a><a href="/pmc/articles/PMC7534033" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24072552">Birt-Hogg-Dubé syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Czyzyk-Krzeska MF,
|
||
McCormack FX</span><br />
|
||
<span class="medgenPMjournal">Fam Cancer</span>
|
||
2013 Sep;12(3):355-6.
|
||
doi: 10.1007/s10689-013-9679-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24072552" target="_blank">24072552</a><a href="/pmc/articles/PMC4047644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Birt-Hogg-Dube%20syndrome%201%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 (328)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37991821">Recommendations on scuba diving in Birt-Hogg-Dubé syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Riel L,
|
||
van Hulst RA,
|
||
van Hest L,
|
||
van Moorselaar R,
|
||
Boerrigter BG,
|
||
Franken SM,
|
||
Wolthuis R,
|
||
Dubbink HJ,
|
||
Marciniak SJ,
|
||
Gupta N,
|
||
van de Beek I,
|
||
Houweling AC</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Respir Med</span>
|
||
2023 Jul-Dec;17(11):1003-1008.
|
||
Epub 2023 Dec 26
|
||
doi: 10.1080/17476348.2023.2284375.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37991821" target="_blank">37991821</a><a href="/pmc/articles/PMC10763569" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31615921">Diffuse Cystic Lung Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Obaidat B,
|
||
Yazdani D,
|
||
Wikenheiser-Brokamp KA,
|
||
Gupta N</span><br />
|
||
<span class="medgenPMjournal">Respir Care</span>
|
||
2020 Jan;65(1):111-126.
|
||
Epub 2019 Oct 15
|
||
doi: 10.4187/respcare.07117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31615921" target="_blank">31615921</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29974615">Management of primary spontaneous pneumothorax: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong A,
|
||
Galiabovitch E,
|
||
Bhagwat K</span><br />
|
||
<span class="medgenPMjournal">ANZ J Surg</span>
|
||
2019 Apr;89(4):303-308.
|
||
Epub 2018 Jul 5
|
||
doi: 10.1111/ans.14713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29974615" target="_blank">29974615</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26608100">Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hasumi H,
|
||
Baba M,
|
||
Hasumi Y,
|
||
Furuya M,
|
||
Yao M</span><br />
|
||
<span class="medgenPMjournal">Int J Urol</span>
|
||
2016 Mar;23(3):204-10.
|
||
Epub 2015 Nov 25
|
||
doi: 10.1111/iju.13015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26608100" target="_blank">26608100</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23295609">Birt-Hogg-Dubé syndrome: metalloproteinase activity and response to doxycycline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pimenta SP,
|
||
Baldi BG,
|
||
Nascimento EC,
|
||
Mauad T,
|
||
Kairalla RA,
|
||
Carvalho CR</span><br />
|
||
<span class="medgenPMjournal">Clinics (Sao Paulo)</span>
|
||
2012 Dec;67(12):1501-4.
|
||
doi: 10.6061/clinics/2012(12)25.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23295609" target="_blank">23295609</a><a href="/pmc/articles/PMC3521818" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Birt-Hogg-Dube%20syndrome%201%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 (24)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35452378">Natural Course of Cysts in Birt-Hogg-Dubé Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoppe BPC,
|
||
Stoel BC,
|
||
Postmus PE</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2022 Jun 15;205(12):1474-1475.
|
||
doi: 10.1164/rccm.202106-1382IM.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35452378" target="_blank">35452378</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33183725">Pediatric Cystic Lung Lesions: Where Are We Now?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cortes-Santiago N,
|
||
Deutsch GH</span><br />
|
||
<span class="medgenPMjournal">Surg Pathol Clin</span>
|
||
2020 Dec;13(4):643-655.
|
||
Epub 2020 Oct 9
|
||
doi: 10.1016/j.path.2020.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33183725" target="_blank">33183725</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29974615">Management of primary spontaneous pneumothorax: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong A,
|
||
Galiabovitch E,
|
||
Bhagwat K</span><br />
|
||
<span class="medgenPMjournal">ANZ J Surg</span>
|
||
2019 Apr;89(4):303-308.
|
||
Epub 2018 Jul 5
|
||
doi: 10.1111/ans.14713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29974615" target="_blank">29974615</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/19841421">Dermoscopic features of Birt-Hogg-Dube syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jarrett R,
|
||
Walker L,
|
||
Side L,
|
||
Bowling J</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
2009 Oct;145(10):1208.
|
||
doi: 10.1001/archdermatol.2009.211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19841421" target="_blank">19841421</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Birt-Hogg-Dube%20syndrome%201%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 (82)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34001170">Birt-Hogg-Dubé syndrome in Chinese patients: a literature review of 120 families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu X,
|
||
Zhang G,
|
||
Chen X,
|
||
Xu KF</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 May 17;16(1):223.
|
||
doi: 10.1186/s13023-021-01848-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34001170" target="_blank">34001170</a><a href="/pmc/articles/PMC8130425" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30201149">Dermoscopy of Adnexal Tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zaballos P,
|
||
Gómez-Martín I,
|
||
Martin JM,
|
||
Bañuls J</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2018 Oct;36(4):397-412.
|
||
Epub 2018 Aug 16
|
||
doi: 10.1016/j.det.2018.05.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30201149" target="_blank">30201149</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28695430">Birt-Hogg-Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tong Y,
|
||
Schneider JA,
|
||
Coda AB,
|
||
Hata TR,
|
||
Cohen PR</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2018 Feb;19(1):87-101.
|
||
doi: 10.1007/s40257-017-0307-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28695430" target="_blank">28695430</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24932752">Eponyms in cardiothoracic radiology: part III--interstitium.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohammed TL,
|
||
Saettele MR,
|
||
Saettele T,
|
||
Patel V,
|
||
Kanne JP</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Diagn Radiol</span>
|
||
2014 Sep-Oct;43(5):285-93.
|
||
Epub 2014 Jun 3
|
||
doi: 10.1067/j.cpradiol.2014.04.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24932752" target="_blank">24932752</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24346920">Birt-Hogg-Dubé syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lencastre A,
|
||
Ponte P,
|
||
Apetato M,
|
||
Nunes L,
|
||
Lestre S</span><br />
|
||
<span class="medgenPMjournal">An Bras Dermatol</span>
|
||
2013 Nov-Dec;88(6 Suppl 1):203-5.
|
||
doi: 10.1590/abd1806-4841.20132199.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24346920" target="_blank">24346920</a><a href="/pmc/articles/PMC3876010" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Birt-Hogg-Dube%20syndrome%201%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 (107)</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/39614964">Salivary Gland Oncocytomas. A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alberto PL,
|
||
Ashim S,
|
||
Megan K,
|
||
Wei Z,
|
||
Nestor G,
|
||
Matthew Z,
|
||
Dayana M,
|
||
Marcelo V,
|
||
John W</span><br />
|
||
<span class="medgenPMjournal">Head Neck Pathol</span>
|
||
2024 Nov 30;18(1):126.
|
||
doi: 10.1007/s12105-024-01730-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39614964" target="_blank">39614964</a><a href="/pmc/articles/PMC11608208" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38896302">A Possible Association of Salivary Gland Tumors and Oral Lesions with Birt-Hogg-Dube Syndrome: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peraza Labrador A,
|
||
Umorin M,
|
||
Shrestha M,
|
||
Abad Villacrez C,
|
||
Wright J</span><br />
|
||
<span class="medgenPMjournal">Head Neck Pathol</span>
|
||
2024 Jun 19;18(1):52.
|
||
doi: 10.1007/s12105-024-01657-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38896302" target="_blank">38896302</a><a href="/pmc/articles/PMC11187023" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34267338">A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matsumoto K,
|
||
Lim D,
|
||
Pharoah PD,
|
||
Maher ER,
|
||
Marciniak SJ</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2021 Nov;29(11):1595-1600.
|
||
Epub 2021 Jul 15
|
||
doi: 10.1038/s41431-021-00921-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34267338" target="_blank">34267338</a><a href="/pmc/articles/PMC8560836" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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 class="nl"><a target="_blank" href="/pubmed/20817385">Hereditary renal cancer syndromes: an update of a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verine J,
|
||
Pluvinage A,
|
||
Bousquet G,
|
||
Lehmann-Che J,
|
||
de Bazelaire C,
|
||
Soufir N,
|
||
Mongiat-Artus P</span><br />
|
||
<span class="medgenPMjournal">Eur Urol</span>
|
||
2010 Nov;58(5):701-10.
|
||
Epub 2010 Aug 27
|
||
doi: 10.1016/j.eururo.2010.08.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20817385" target="_blank">20817385</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Birt-Hogg-Dube%20syndrome%201%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 (7)</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">
|
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<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>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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|
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|
||
<div class="portlet mgSection" id="ID_119">
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<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>
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||
<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=135150" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Birt-Hogg-Dube%20syndrome%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(birt-hogg-dube%20syndrome%201)%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(%22Birt-Hogg-Dube%20syndrome%201%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>
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|
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|
||
<div class="portlet mgSection" id="ID_115">
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<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>
|
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<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=607273" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=201163[geneid]" target="_blank">View FLCN variations in ClinVar</a></li><li><a href="/nuccore/190194382" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=135150" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Birt-Hogg-Dube%20syndrome%201" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/2322/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
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<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>
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||
<div class="portlet_content">
|
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<ul>
|
||
<li>
|
||
<a href="/pubmed/20301695" 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=Birt-Hogg-Dube%20syndrome%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Birt-Hogg-Dube%20syndrome%201%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>
|
||
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|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
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||
</div>
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||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1051978" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1051978" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1051978" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1051978" ref="log$=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=1051978" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1051978" ref="log$=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=1051978" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1051978" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
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<h3>Recent activity</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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<div class="portlet_content">
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<div id="HTDisplay" class="">
|
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
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||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
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</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d3296c84f3725e599bac80">Birt-Hogg-Dube syndrome 1</a>
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