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<meta name="keywords" content="C0018552, hamartoma, hamartoma (disease), hamartomas, neoplastic process, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=6713
|
||
ConceptID=C0018552
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hamartoma</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6713</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:">C0018552</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Hamartomas</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hamartoma (400006008); Hamartoma (51398009)</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:0010566">HP:0010566</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0006499" target="_blank">MONDO:0006499</a></td></tr>
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||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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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=C0018552[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=6713">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6713" ref="ncbi_uid=6713">V</a></span></span><span class="TLline">Hamartoma</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/10294" ref="tree=MeSH" title="MedGen record for Neoplasm">Neoplasm</a></span><ul><li><span class="matched_ds">Hamartoma</span><ul><li><span class="TLline"><a href="/medgen/577255" ref="tree=MeSH" title="MedGen record for Benign Triton Tumor">Benign Triton Tumor</a></span></li><li><span class="TLline"><a href="/medgen/116039" ref="tree=MeSH" title="MedGen record for Breast Hamartoma">Breast Hamartoma</a></span><ul><li><span class="TLline"><a href="/medgen/267397" ref="tree=MeSH" title="MedGen record for Breast Adenohibernoma">Breast Adenohibernoma</a></span></li><li><span class="TLline"><a href="/medgen/282807" ref="tree=MeSH" title="MedGen record for Breast Adenolipoma">Breast Adenolipoma</a></span></li><li><span class="TLline"><a href="/medgen/267770" ref="tree=MeSH" title="MedGen record for Breast Myoid Hamartoma">Breast Myoid Hamartoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/232041" ref="tree=MeSH" title="MedGen record for Central Nervous System Hamartoma">Central Nervous System Hamartoma</a></span><ul><li><span class="TLline"><a href="/medgen/83892" ref="tree=MeSH" title="MedGen record for Hamartoma of brain">Hamartoma of brain</a></span><ul><li><span class="TLline"><a href="/medgen/137970" ref="tree=MeSH" title="MedGen record for Hamartoma of hypothalamus">Hamartoma of hypothalamus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/277660" ref="tree=MeSH" title="MedGen record for Spinal Cord Hamartoma">Spinal Cord Hamartoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/313028" ref="tree=MeSH" title="MedGen record for Chondroid hamartoma">Chondroid hamartoma</a></span><ul><li><span class="TLline"><a href="/medgen/101774" ref="tree=MeSH" title="MedGen record for Hamartoma of lung">Hamartoma of lung</a></span><ul><li><span class="TLline"><a href="/medgen/232454" ref="tree=MeSH" title="MedGen record for Endobronchial Hamartoma">Endobronchial Hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/277385" ref="tree=MeSH" title="MedGen record for Multiple Pulmonary Hamartomas">Multiple Pulmonary Hamartomas</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/224911" ref="tree=MeSH" title="MedGen record for Congenital hamartoma">Congenital hamartoma</a></span><ul><li><span class="TLline"><a href="/medgen/83962" ref="tree=MeSH" title="MedGen record for Congenital epulis">Congenital epulis</a></span></li><li><span class="TLline"><a href="/medgen/1747294" ref="tree=MeSH" title="MedGen record for Hairy Polyp">Hairy Polyp</a></span><ul><li><span class="TLline"><a href="/medgen/414169" ref="tree=MeSH" title="MedGen record for Nasopharyngeal Hairy Polyp">Nasopharyngeal Hairy Polyp</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1755423" ref="tree=MeSH" title="MedGen record for Nasopharyngeal Salivary Gland Anlage Tumor">Nasopharyngeal Salivary Gland Anlage Tumor</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83107" ref="tree=MeSH" title="MedGen record for Connective tissue nevi">Connective tissue nevi</a></span><ul><li><span class="TLline"><a href="/medgen/75590" ref="tree=MeSH" title="MedGen record for Collagenoma">Collagenoma</a></span></li><li><span class="TLline"><a href="/medgen/96072" ref="tree=MeSH" title="MedGen record for Eruptive Collagenoma">Eruptive Collagenoma</a></span></li><li><span class="TLline"><a href="/medgen/98364" ref="tree=MeSH" title="MedGen record for Sclerotic Fibroma">Sclerotic Fibroma</a></span></li><li><span class="TLline"><a href="/medgen/96599" ref="tree=MeSH" title="MedGen record for Shagreen patch">Shagreen patch</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5420" ref="tree=MeSH" title="MedGen record for Cowden syndrome">Cowden syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/39008" ref="tree=MeSH" title="MedGen record for Proteus syndrome">Proteus syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/724285" ref="tree=MeSH" title="MedGen record for Cutaneous hamartoma">Cutaneous hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/882657" ref="tree=MeSH" title="MedGen record for Cutaneous Neurocristic Hamartoma">Cutaneous Neurocristic Hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/473001" ref="tree=MeSH" title="MedGen record for Ecchordosis physaliphora">Ecchordosis physaliphora</a></span></li><li><span class="TLline"><a href="/medgen/120562" ref="tree=MeSH" title="MedGen record for Fibrous hamartoma">Fibrous hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/313256" ref="tree=MeSH" title="MedGen record for Hamartoma of Mature Cardiac Myocytes">Hamartoma of Mature Cardiac Myocytes</a></span></li><li><span class="TLline"><a href="/medgen/224909" ref="tree=MeSH" title="MedGen record for Hamartoma of skin appendage">Hamartoma of skin appendage</a></span><ul><li><span class="TLline"><a href="/medgen/233991" ref="tree=MeSH" title="MedGen record for Apocrine Sweat Gland Hamartoma">Apocrine Sweat Gland Hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/232145" ref="tree=MeSH" title="MedGen record for Eccrine sweat gland hamartoma">Eccrine sweat gland hamartoma</a></span><ul><li><span class="TLline"><a href="/medgen/98361" ref="tree=MeSH" title="MedGen record for Eccrine angiomatous hamartoma">Eccrine angiomatous hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/96880" ref="tree=MeSH" title="MedGen record for Porokeratotic eccrine ostial and dermal duct nevus">Porokeratotic eccrine ostial and dermal duct nevus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/277515" ref="tree=MeSH" title="MedGen record for Pilosebaceous hamartoma">Pilosebaceous hamartoma</a></span><ul><li><span class="TLline"><a href="/medgen/96887" ref="tree=MeSH" title="MedGen record for Basaloid follicular hamartoma">Basaloid follicular hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/6707" ref="tree=MeSH" title="MedGen record for Hair nevus">Hair nevus</a></span></li><li><span class="TLline"><a href="/medgen/98039" ref="tree=MeSH" title="MedGen record for Moniliform Hamartoma">Moniliform Hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/75592" ref="tree=MeSH" title="MedGen record for Nevus comedonicus syndrome">Nevus comedonicus syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/893126" ref="tree=MeSH" title="MedGen record for Hamartoma of the orbital region">Hamartoma of the orbital region</a></span></li><li><span class="TLline"><a href="/medgen/83109" ref="tree=MeSH" title="MedGen record for Hamartomatous polyp">Hamartomatous polyp</a></span><ul><li><span class="TLline"><a href="/medgen/474435" ref="tree=MeSH" title="MedGen record for Hamartomatous polyposis">Hamartomatous polyposis</a></span><ul><li><span class="TLline"><a href="/medgen/474434" ref="tree=MeSH" title="MedGen record for Colorectal hamartoma">Colorectal hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/90961" ref="tree=MeSH" title="MedGen record for Gastric hamartomatous polyp">Gastric hamartomatous polyp</a></span></li><li><span class="TLline"><a href="/medgen/1813073" ref="tree=MeSH" title="MedGen record for Juvenile gastrointestinal polyposis">Juvenile gastrointestinal polyposis</a></span></li><li><span class="TLline"><a href="/medgen/113158" ref="tree=MeSH" title="MedGen record for Juvenile polyps">Juvenile polyps</a></span></li><li><span class="TLline"><a href="/medgen/141582" ref="tree=MeSH" title="MedGen record for Peutz-Jeghers polyp">Peutz-Jeghers polyp</a></span></li><li><span class="TLline"><a href="/medgen/224907" ref="tree=MeSH" title="MedGen record for Small intestinal polyp">Small intestinal polyp</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/75526" ref="tree=MeSH" title="MedGen record for Hyperpigmentation, progressive cribriform and zosteriform">Hyperpigmentation, progressive cribriform and zosteriform</a></span></li><li><span class="TLline"><a href="/medgen/1646345" ref="tree=MeSH" title="MedGen record for Linear nevus sebaceous syndrome">Linear nevus sebaceous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/609054" ref="tree=MeSH" title="MedGen record for Liver hamartoma">Liver hamartoma</a></span><ul><li><span class="TLline"><a href="/medgen/272705" ref="tree=MeSH" title="MedGen record for Hepatic angiomyolipoma">Hepatic angiomyolipoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/887343" ref="tree=MeSH" title="MedGen record for Meningothelial Hamartoma">Meningothelial Hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/83108" ref="tree=MeSH" title="MedGen record for Mesenchymal hamartoma">Mesenchymal hamartoma</a></span><ul><li><span class="TLline"><a href="/medgen/137719" ref="tree=MeSH" title="MedGen record for Cartilaginous Hamartoma">Cartilaginous Hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/353536" ref="tree=MeSH" title="MedGen record for Chondromesenchymal hamartoma of chest wall">Chondromesenchymal hamartoma of chest wall</a></span></li><li><span class="TLline"><a href="/medgen/227000" ref="tree=MeSH" title="MedGen record for Lipomatous hamartoma">Lipomatous hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/232278" ref="tree=MeSH" title="MedGen record for Liver mesenchymal hamartoma">Liver mesenchymal hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/1749736" ref="tree=MeSH" title="MedGen record for Sinonasal Chondromesenchymal Hamartoma">Sinonasal Chondromesenchymal Hamartoma</a></span><ul><li><span class="TLline"><a href="/medgen/888652" ref="tree=MeSH" title="MedGen record for Nasal Chondromesenchymal Hamartoma">Nasal Chondromesenchymal Hamartoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1782263" ref="tree=MeSH" title="MedGen record for Vascular hamartoma">Vascular hamartoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1864173" ref="tree=MeSH" title="MedGen record for Nasal hamartoma">Nasal hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/45181" ref="tree=MeSH" title="MedGen record for Odontoma">Odontoma</a></span><ul><li><span class="TLline"><a href="/medgen/83166" ref="tree=MeSH" title="MedGen record for Complex Odontoma">Complex Odontoma</a></span></li><li><span class="TLline"><a href="/medgen/61468" ref="tree=MeSH" title="MedGen record for Compound Odontoma">Compound Odontoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120514" ref="tree=MeSH" title="MedGen record for Pallister-Hall syndrome">Pallister-Hall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1841921" ref="tree=MeSH" title="MedGen record for Pancreatic hamartoma">Pancreatic hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/690113" ref="tree=MeSH" title="MedGen record for Renal hamartoma">Renal hamartoma</a></span><ul><li><span class="TLline"><a href="/medgen/69146" ref="tree=MeSH" title="MedGen record for Renal angiomyolipoma">Renal angiomyolipoma</a></span><ul><li><span class="TLline"><a href="/medgen/272468" ref="tree=MeSH" title="MedGen record for Childhood kidney angiomyolipoma">Childhood kidney angiomyolipoma</a></span></li><li><span class="TLline"><a href="/medgen/1677196" ref="tree=MeSH" title="MedGen record for Kidney Epithelioid Angiomyolipoma">Kidney Epithelioid Angiomyolipoma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/354977" ref="tree=MeSH" title="MedGen record for Retinal hamartoma">Retinal hamartoma</a></span><ul><li><span class="TLline"><a href="/medgen/396281" ref="tree=MeSH" title="MedGen record for Combined hamartoma of the retinal pigment epithelium and retina">Combined hamartoma of the retinal pigment epithelium and retina</a></span></li><li><span class="TLline"><a href="/medgen/137924" ref="tree=MeSH" title="MedGen record for Retinal astrocytic hamartoma">Retinal astrocytic hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/892596" ref="tree=MeSH" title="MedGen record for Retinal racemose hemangioma">Retinal racemose hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1723618" ref="tree=MeSH" title="MedGen record for Simple Hamartoma of the Retinal Pigment Epithelium">Simple Hamartoma of the Retinal Pigment Epithelium</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1744899" ref="tree=MeSH" title="MedGen record for Sinonasal Respiratory Epithelial Adenomatoid Hamartoma">Sinonasal Respiratory Epithelial Adenomatoid Hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/1736218" ref="tree=MeSH" title="MedGen record for Sinonasal Seromucinous Hamartoma">Sinonasal Seromucinous Hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/699195" ref="tree=MeSH" title="MedGen record for Spleen hamartoma">Spleen hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/22518" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis syndrome">Tuberous sclerosis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/325000" ref="tree=MeSH" title="MedGen record for Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis">Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/344288" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis 1">Tuberous sclerosis 1</a></span></li><li><span class="TLline"><a href="/medgen/348170" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis 2">Tuberous sclerosis 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841625" ref="tree=MeSH" title="MedGen record for Urinary bladder hamartoma">Urinary bladder hamartoma</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_4698"><div><strong>Progressive myositis ossificans</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4698</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.">C0016037</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Fibrodysplasia ossificans progressiva (FOP) is characterized by congenital bilateral hallux valgus malformations and early-onset heterotopic ossification, which may be spontaneous or precipitated by trauma including intramuscular vaccinations. Painful, recurrent soft-tissue swellings (flare-ups) may precede localized heterotopic ossification. Heterotopic ossification can occur at any location, but typically affects regions in close proximity to the axial skeleton in the early/mild stages, before progressing to the appendicular skeleton. This can lead to restriction of movement as a result of ossification impacting joint mobility. Problems with swallowing and speaking can occur with ossification affecting the jaw, head, and neck, and restriction of the airway and breathing may lead to thoracic insufficiency syndrome.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/4698">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_91261"><div><strong>Branchiooculofacial syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91261</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.">C0376524</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Branchiooculofacial syndrome (BOFS) is characterized by branchial (cervical or infra- or supra-auricular) skin defects that range from barely perceptible thin skin or hair patch to erythematous "hemangiomatous" lesions to large weeping erosions; ocular anomalies that can include microphthalmia, anophthalmia, coloboma, cataract, and nasolacrimal duct stenosis/atresia; and facial anomalies that can include dolichocephaly, hypertelorism or telecanthus, broad nasal tip, upslanted palpebral fissures, cleft lip or prominent philtral pillars that give the appearance of a repaired cleft lip (formerly called "pseudocleft lip") with or without cleft palate, upper lip pits, and lower facial weakness (asymmetric crying face or partial weakness of cranial nerve VII). Malformed and prominent pinnae and hearing loss from inner ear and/or petrous bone anomalies are common. Intellect is usually normal.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/91261">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_208667"><div><strong>Orofaciodigital syndrome VIII</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208667</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.">C0796101</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Other features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.\n\nAbnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums.\n\nAbnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome.\n\nDistinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism).\n\nThe signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability.\n\nResearchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder.\n\nOral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/208667">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_162908"><div><strong>Orofaciodigital syndrome IX</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162908</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.">C0796102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Syndrome with characteristics of highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid hallux, forked metatarsal, poly and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). Less than ten cases have been described in the literature. The causative gene has not yet been identified.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/162908">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_310065"><div><strong>Hyperparathyroidism 2 with jaw tumors</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>310065</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.">C1704981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The spectrum of CDC73-related disorders includes the following phenotypes: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome. Primary hyperparathyroidism occurs in a vast majority of affected individuals, with onset typically in late adolescence or early adulthood. HPT-JT syndrome-associated primary hyperparathyroidism is usually caused by a single parathyroid adenoma. In at least 10%-15% of individuals, primary hyperparathyroidism is caused by parathyroid carcinoma. Ossifying fibromas of the mandible or maxilla, also known as cementifying fibromas and cemento-ossifying fibromas, occur in 30%-40% of individuals with HPT-JT syndrome. Although benign, these tumors can be locally aggressive and may continue to enlarge if not treated. Up to 20% of individuals with HPT-JT syndrome have kidney lesions, most commonly cysts; renal hamartomas and (more rarely) Wilms tumor have also been reported. Benign uterine tumors appear to be common in women with HPT-JT syndrome; uterine malignancies have also been reported. Parathyroid carcinoma. Most parathyroid carcinomas are functional, resulting in primary hyperparathyroidism and a high serum calcium level; however, nonfunctioning parathyroid carcinomas are also rarely described in individuals with a CDC73-related disorder. A germline CDC73 pathogenic variant has been identified in 20%-29% of individuals with parathyroid carcinoma without a known family history of CDC73-related conditions. Familial isolated hyperparathyroidism (FIHP). Characterized by primary hyperparathyroidism without other associated syndromic features. Individuals with CDC73-related FIHP tend to have a more severe clinical presentation and younger age of onset than individuals with FIHP in whom a CDC73 pathogenic variant has not been identified.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/310065">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_331965"><div><strong>Lip, hamartomatous</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331965</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.">C1835395</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/331965">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_342846"><div><strong>Hamartoma, Precalcaneal congenital fibrolipomatous</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342846</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.">C1853298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/342846">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_343009"><div><strong>Generalized basaloid follicular hamartoma syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343009</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.">C1853919</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/343009">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_358378"><div><strong>Nasopalpebral lipoma-coloboma syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358378</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.">C1868660</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Nasopalpebral lipoma-coloboma syndrome (NPLCS) is an autosomal dominant condition characterized by upper eyelid and nasopalpebral lipomas, colobomas of upper and lower eyelids, telecanthus, and maxillary hypoplasia (summary by Suresh et al., 2011).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/358378">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_767431"><div><strong>Cowden syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767431</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.">C3554517</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.\n\n\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/767431">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934691"><div><strong>Short-rib thoracic dysplasia 15 with polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934691</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.">C4310724</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family. For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (208500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934691">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1847218"><div><strong>Congenital smooth muscle hamartoma, with or without hemihypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847218</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.">C5882676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital smooth muscle hamartoma (CSMH) is a benign skin lesion that presents as an indurated, slightly pigmented or flesh-colored plaque with perifollicular papules or coarse hair. Histopathologically, there is excessive proliferation of ectopic smooth muscle within the dermis. Rarely, CSMH is associated with hemihypertrophy (Atzmony et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1847218">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_91261" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Branchiooculofacial syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital smooth muscle hamartoma, with or without hemihypertrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767431" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cowden syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized basaloid follicular hamartoma syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342846" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hamartoma, Precalcaneal congenital fibrolipomatous</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (12)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_310065" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperparathyroidism 2 with jaw tumors</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331965" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lip, hamartomatous</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358378" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nasopalpebral lipoma-coloboma syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162908" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome IX</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome VIII</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_4698" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive myositis ossificans</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934691" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short-rib thoracic dysplasia 15 with polydactyly</a></div></span></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/35810471">Topical capsaicin patch for pain management in PTEN hamartoma tumor syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva-Clavería F,
|
||
Bernabeu-Wittel J,
|
||
Monserrat MT</span><br />
|
||
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
|
||
2022 Sep;20(9):1221-1223.
|
||
Epub 2022 Jul 10
|
||
doi: 10.1111/ddg.14826.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35810471" target="_blank">35810471</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29706350">A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mighell TL,
|
||
Evans-Dutson S,
|
||
O'Roak BJ</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2018 May 3;102(5):943-955.
|
||
Epub 2018 Apr 26
|
||
doi: 10.1016/j.ajhg.2018.03.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29706350" target="_blank">29706350</a><a href="/pmc/articles/PMC5986715" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24136893">Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pilarski R,
|
||
Burt R,
|
||
Kohlman W,
|
||
Pho L,
|
||
Shannon KM,
|
||
Swisher E</span><br />
|
||
<span class="medgenPMjournal">J Natl Cancer Inst</span>
|
||
2013 Nov 6;105(21):1607-16.
|
||
Epub 2013 Oct 17
|
||
doi: 10.1093/jnci/djt277.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24136893" target="_blank">24136893</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hamartoma%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 (138)</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/34145757">Hamartomatous polyposis syndrome associated malignancies: Risk, pathogenesis and endoscopic surveillance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu S,
|
||
Ma Y,
|
||
You W,
|
||
Li J,
|
||
Li JN,
|
||
Qian JM</span><br />
|
||
<span class="medgenPMjournal">J Dig Dis</span>
|
||
2021 Aug;22(8):444-451.
|
||
Epub 2021 Jul 8
|
||
doi: 10.1111/1751-2980.13029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34145757" target="_blank">34145757</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29380040">Sinonasal seromucinous hamartoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang YW,
|
||
Kuo YJ,
|
||
Ho CY,
|
||
Lan MY</span><br />
|
||
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
|
||
2018 Mar;275(3):743-749.
|
||
Epub 2018 Jan 30
|
||
doi: 10.1007/s00405-018-4885-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29380040" target="_blank">29380040</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28476234">Clinical Implications for Germline PTEN Spectrum Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ngeow J,
|
||
Sesock K,
|
||
Eng C</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
2017 Jun;46(2):503-517.
|
||
Epub 2017 Mar 18
|
||
doi: 10.1016/j.ecl.2017.01.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28476234" target="_blank">28476234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21800071">Small bowel polyposis syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arber N,
|
||
Moshkowitz M</span><br />
|
||
<span class="medgenPMjournal">Curr Gastroenterol Rep</span>
|
||
2011 Oct;13(5):435-41.
|
||
doi: 10.1007/s11894-011-0218-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21800071" target="_blank">21800071</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20580873">Cowden syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farooq A,
|
||
Walker LJ,
|
||
Bowling J,
|
||
Audisio RA</span><br />
|
||
<span class="medgenPMjournal">Cancer Treat Rev</span>
|
||
2010 Dec;36(8):577-83.
|
||
Epub 2010 May 23
|
||
doi: 10.1016/j.ctrv.2010.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20580873" target="_blank">20580873</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hamartoma%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 (1804)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38762814">Cowden Syndrome-Oral Finding.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stantz AM,
|
||
Newman JS</span><br />
|
||
<span class="medgenPMjournal">Mayo Clin Proc</span>
|
||
2024 Jul;99(7):1187.
|
||
Epub 2024 May 18
|
||
doi: 10.1016/j.mayocp.2024.02.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38762814" target="_blank">38762814</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33658120">Cowden Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dickerson T,
|
||
Poche W,
|
||
Meaux T</span><br />
|
||
<span class="medgenPMjournal">Skinmed</span>
|
||
2021;19(1):69-71.
|
||
Epub 2021 Feb 1
|
||
<span class="bold">PMID: </span><a href="/pubmed/33658120" target="_blank">33658120</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29894252">Cowden syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taghavi A,
|
||
Mirfazaelian H,
|
||
Shirian S,
|
||
Aledavood A,
|
||
Akhgar A</span><br />
|
||
<span class="medgenPMjournal">Br J Hosp Med (Lond)</span>
|
||
2018 Jun 2;79(6):352-353.
|
||
doi: 10.12968/hmed.2018.79.6.352.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29894252" target="_blank">29894252</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25171996">Hamartoneoplastic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shafer DM,
|
||
Di Pasquale LM</span><br />
|
||
<span class="medgenPMjournal">Atlas Oral Maxillofac Surg Clin North Am</span>
|
||
2014 Sep;22(2):153-66.
|
||
doi: 10.1016/j.cxom.2014.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25171996" target="_blank">25171996</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7760320">Cowden syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hanssen AM,
|
||
Fryns JP</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1995 Feb;32(2):117-9.
|
||
doi: 10.1136/jmg.32.2.117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7760320" target="_blank">7760320</a><a href="/pmc/articles/PMC1050232" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hamartoma%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 (4683)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24617179">Hypothalamic hamartoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Topff L,
|
||
Gelin G</span><br />
|
||
<span class="medgenPMjournal">JBR-BTR</span>
|
||
2013 Nov-Dec;96(6):362-4.
|
||
doi: 10.5334/jbr-btr.461.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24617179" target="_blank">24617179</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21163154">Eruptive collagenomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Batra P,
|
||
Loyd A,
|
||
Patel R,
|
||
Walters R,
|
||
Stein JA</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2010 Nov 15;16(11):3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21163154" target="_blank">21163154</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20235885">mTOR signaling in lymphangioleiomyomatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kristof AS</span><br />
|
||
<span class="medgenPMjournal">Lymphat Res Biol</span>
|
||
2010 Mar;8(1):33-42.
|
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doi: 10.1089/lrb.2009.0019.
|
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<span class="bold">PMID: </span><a href="/pubmed/20235885" target="_blank">20235885</a><a href="/pmc/articles/PMC2883527" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17031738">Laparoscopic partial splenectomy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Uranues S,
|
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Grossman D,
|
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Ludwig L,
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Bergamaschi R</span><br />
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<span class="medgenPMjournal">Surg Endosc</span>
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2007 Jan;21(1):57-60.
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Epub 2006 Oct 9
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doi: 10.1007/s00464-006-0124-2.
|
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<span class="bold">PMID: </span><a href="/pubmed/17031738" target="_blank">17031738</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/39811">Tumorigenic aspects.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kirk ME</span><br />
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|
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1978-1979;16(6):473-8.
|
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doi: 10.1002/j.1879-3479.1979.tb00952.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39811" target="_blank">39811</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hamartoma%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 (497)</a></div><h3 class="subhead">Prognosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/31433956">The Clinical Spectrum of PTEN Mutations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yehia L,
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Keel E,
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Eng C</span><br />
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2020 Jan 27;71:103-116.
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Epub 2019 Aug 21
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doi: 10.1146/annurev-med-052218-125823.
|
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<span class="bold">PMID: </span><a href="/pubmed/31433956" target="_blank">31433956</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/29380040">Sinonasal seromucinous hamartoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang YW,
|
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Kuo YJ,
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Ho CY,
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Lan MY</span><br />
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<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
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2018 Mar;275(3):743-749.
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Epub 2018 Jan 30
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doi: 10.1007/s00405-018-4885-8.
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<span class="bold">PMID: </span><a href="/pubmed/29380040" target="_blank">29380040</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/20580873">Cowden syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Farooq A,
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Walker LJ,
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Bowling J,
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Audisio RA</span><br />
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<span class="medgenPMjournal">Cancer Treat Rev</span>
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2010 Dec;36(8):577-83.
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Epub 2010 May 23
|
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doi: 10.1016/j.ctrv.2010.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20580873" target="_blank">20580873</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/11588539">Small intestinal neoplasms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gill SS,
|
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Heuman DM,
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Mihas AA</span><br />
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<span class="medgenPMjournal">J Clin Gastroenterol</span>
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2001 Oct;33(4):267-82.
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doi: 10.1097/00004836-200110000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11588539" target="_blank">11588539</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3994327">Colonic polyps.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ackroyd FW,
|
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Hedberg SE</span><br />
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<span class="medgenPMjournal">Annu Rev Med</span>
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1985;36:619-25.
|
||
doi: 10.1146/annurev.me.36.020185.003155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3994327" target="_blank">3994327</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hamartoma%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 (1168)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38242121">Cell-free DNA fragmentomics and second malignant neoplasm risk in patients with PTEN hamartoma tumor syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu D,
|
||
Yehia L,
|
||
Dhawan A,
|
||
Ni Y,
|
||
Eng C</span><br />
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<span class="medgenPMjournal">Cell Rep Med</span>
|
||
2024 Feb 20;5(2):101384.
|
||
Epub 2024 Jan 18
|
||
doi: 10.1016/j.xcrm.2023.101384.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38242121" target="_blank">38242121</a><a href="/pmc/articles/PMC10897513" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33183731">Pediatric and Infantile Fibroblastic/Myofibroblastic Tumors in the Molecular Era.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis JL,
|
||
Rudzinski ER</span><br />
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<span class="medgenPMjournal">Surg Pathol Clin</span>
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||
2020 Dec;13(4):739-762.
|
||
doi: 10.1016/j.path.2020.08.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33183731" target="_blank">33183731</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32533408">Eruption sequestrum: an inflamed odontogenic hamartoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roza ALOC,
|
||
de Abreu Brandi TC,
|
||
Bezerra KT,
|
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Abrahão AC,
|
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Agostini M,
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de Andrade BAB,
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Vargas PA,
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Romañach MJ</span><br />
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<span class="medgenPMjournal">Oral Maxillofac Surg</span>
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2020 Sep;24(3):363-368.
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Epub 2020 Jun 12
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doi: 10.1007/s10006-020-00865-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32533408" target="_blank">32533408</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29706350">A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mighell TL,
|
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Evans-Dutson S,
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O'Roak BJ</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
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2018 May 3;102(5):943-955.
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Epub 2018 Apr 26
|
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doi: 10.1016/j.ajhg.2018.03.018.
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<span class="bold">PMID: </span><a href="/pubmed/29706350" target="_blank">29706350</a><a href="/pmc/articles/PMC5986715" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19414148">Hamartomatous polyposis syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gammon A,
|
||
Jasperson K,
|
||
Kohlmann W,
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||
Burt RW</span><br />
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<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
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2009;23(2):219-31.
|
||
doi: 10.1016/j.bpg.2009.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19414148" target="_blank">19414148</a><a href="/pmc/articles/PMC2678968" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hamartoma%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 (1048)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36183177">Minimally invasive procedures for hypothalamic hamartoma-related epilepsy: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iranmehr A,
|
||
Dabbagh Ohadi MA,
|
||
Chavoshi M,
|
||
Jahanbakhshi A,
|
||
Slavin KV</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Focus</span>
|
||
2022 Oct;53(4):E8.
|
||
doi: 10.3171/2022.7.FOCUS22296.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36183177" target="_blank">36183177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34545759">A systematic review of symptomatic hamartomas of the jejunum and ileum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farkas N,
|
||
Conroy M,
|
||
Baig M</span><br />
|
||
<span class="medgenPMjournal">Ann R Coll Surg Engl</span>
|
||
2022 Jan;104(1):18-23.
|
||
Epub 2021 Sep 21
|
||
doi: 10.1308/rcsann.2021.0038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34545759" target="_blank">34545759</a><a href="/pmc/articles/PMC9773899" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30977116">Neuropsychiatric profile of paediatric hypothalamic hamartoma: systematic review and case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corbet Burcher G,
|
||
Liang H,
|
||
Lancaster R,
|
||
Cross JH,
|
||
Tisdall M,
|
||
Varadkar S,
|
||
Spoudeas HA,
|
||
Caredda E,
|
||
Bennett S,
|
||
Heyman I</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2019 Dec;61(12):1377-1385.
|
||
Epub 2019 Apr 11
|
||
doi: 10.1111/dmcn.14241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30977116" target="_blank">30977116</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24136893">Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pilarski R,
|
||
Burt R,
|
||
Kohlman W,
|
||
Pho L,
|
||
Shannon KM,
|
||
Swisher E</span><br />
|
||
<span class="medgenPMjournal">J Natl Cancer Inst</span>
|
||
2013 Nov 6;105(21):1607-16.
|
||
Epub 2013 Oct 17
|
||
doi: 10.1093/jnci/djt277.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24136893" target="_blank">24136893</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16291152">Mesenchymal hamartoma of the liver: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stringer MD,
|
||
Alizai NK</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2005 Nov;40(11):1681-90.
|
||
doi: 10.1016/j.jpedsurg.2005.07.052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16291152" target="_blank">16291152</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hamartoma%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 (43)</a></div></div>
|
||
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|
||
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|
||
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|
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|
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|
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|
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|
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|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0018552%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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<li><a href="/gtr/tests?term=C0018552%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0018552%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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