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<meta name="keywords" content="C0206042, disease or syndrome, familial fatal insomnia, familial fatal insomnias, familial fatal, insomnia, familial fatals, insomnia, fatal familial insomnia, fatal familial insomnias, fatal insomnia, familial, fatal insomnias, familial, fatal, insomnia familial, fatals, insomnia familial, ffi, ffi - familial fatal insomnia, insomnia familial fatal, insomnia familial fatals, insomnia, familial fatal, insomnia, fatal familial, insomnias, familial fatal, insomnias, fatal familial, prnp, 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="Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=104768
|
||
ConceptID=C0206042
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Fatal familial insomnia<span class="h1sub">(FFI)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104768</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.">C0206042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>FFI</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>FFI - Familial fatal insomnia (83157008); Familial fatal insomnia (83157008); Fatal familial insomnia (83157008)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="PRNP - ID: 5621 - NCBI Gene" href="/gene/5621" class="medgenPMinfo">PRNP</a> (20p13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010808" target="_blank">MONDO:0010808</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/600072" target="_blank">600072</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=466">ORPHA466</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>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<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/NBK1229" target="_blank">Genetic Prion Disease</a></div><div>Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome. [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/NBK1229#prion.Summary" target="NBK1229">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.GeneReview_Scope" target="NBK1229">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Diagnosis" target="NBK1229">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Clinical_Characteristics" target="NBK1229">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Genetically_Related_Allelic_Disord" target="NBK1229">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Differential_Diagnosis" target="NBK1229">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Management" target="NBK1229">Management</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Genetic_Counseling" target="NBK1229">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Resources" target="NBK1229">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Molecular_Genetics" target="NBK1229">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.Chapter_Notes" target="NBK1229">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1229#prion.References" target="NBK1229">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Inga Zerr | Matthias Schmitz <a href="/books/NBK1229" target="NBK1229" title="NCBI Bookshelf: Genetic Prion Disease">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Fatal familial insomnia is a prion disorder showing autosomal dominant inheritance. It is clinically characterized by insomnia with or without a diurnal dreaming state, hallucinations, delirium, and dysautonomia preceding motor and cognitive deterioration. FFI is specifically associated with the asp178-to-asn mutation of the PRNP gene (D178N; 176640.0010) when the amino acid at position 129 is methionine (M129V; 176640.0005). The D178N mutation and the val129 allele results in Creutzfeldt-Jacob disease (CJD; 123400) (see 176640.0007) (Goldfarb et al., 1992). CJD typically presents with dementia, ataxia, myoclonus, and other abnormal movements; however, there is considerable clinical and pathologic overlap between FFI and CJD, and some individuals with D178N and met129 may present with a phenotype suggestive of CJD. Thus, FFI and CJD may be viewed as extremes of a phenotypic spectrum (summary by Zarranz et al., 2005). <a target="_blank" href="http://www.omim.org/entry/600072">http://www.omim.org/entry/600072</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating movements (ataxia). The signs and symptoms of prion disease typically begin in adulthood and worsen with time, leading to death within a few months to several years. <a target="_blank" href="https://medlineplus.gov/genetics/condition/prion-disease">https://medlineplus.gov/genetics/condition/prion-disease</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_38289"><div><strong>Urinary retention</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38289</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.">C0080274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Functional Concept</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to completely empty the urinary bladder during the process of urination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Urinary%20retention%22%5BClinical%20Features%5D%20OR%2038289%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_853198"><div><strong>Weight loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853198</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.">C1262477</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction of total body weight.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853198">Feature record</a> | <a href="/medgen?term=%22Weight%20loss%22%5BClinical%20Features%5D%20OR%20853198%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1101"><div><strong>Constipation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1101</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.">C0009806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infrequent or difficult evacuation of feces.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1101">Feature record</a> | <a href="/medgen?term=%22Constipation%22%5BClinical%20Features%5D%20OR%201101%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41440"><div><strong>Dysphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41440</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.">C0011168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty in swallowing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41440">Feature record</a> | <a href="/medgen?term=%22Dysphagia%22%5BClinical%20Features%5D%20OR%2041440%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8511"><div><strong>Abnormal autonomic nervous system physiology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8511</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.">C0013363</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A functional abnormality of the autonomic nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8511">Feature record</a> | <a href="/medgen?term=%22Abnormal%20autonomic%20nervous%20system%20physiology%22%5BClinical%20Features%5D%20OR%208511%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10234"><div><strong>Myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10234</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.">C0027066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10234">Feature record</a> | <a href="/medgen?term=%22Myoclonus%22%5BClinical%20Features%5D%20OR%2010234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99229"><div><strong>Dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99229</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.">C0497327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99229">Feature record</a> | <a href="/medgen?term=%22Dementia%22%5BClinical%20Features%5D%20OR%2099229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_214589"><div><strong>Insomnia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>214589</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.">C0917801</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent difficulty initiating or maintaining sleep.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/214589">Feature record</a> | <a href="/medgen?term=%22Insomnia%22%5BClinical%20Features%5D%20OR%20214589%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342515"><div><strong>Neuronal loss in central nervous system</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342515</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.">C1850496</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342515">Feature record</a> | <a href="/medgen?term=%22Neuronal%20loss%20in%20central%20nervous%20system%22%5BClinical%20Features%5D%20OR%20342515%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341885"><div><strong>Cerebral cortex with spongiform changes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341885</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.">C1857934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341885">Feature record</a> | <a href="/medgen?term=%22Cerebral%20cortex%20with%20spongiform%20changes%22%5BClinical%20Features%5D%20OR%20341885%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2009"><div><strong>Apnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2009</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.">C0003578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2009">Feature record</a> | <a href="/medgen?term=%22Apnea%22%5BClinical%20Features%5D%20OR%202009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5169"><div><strong>Fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5169</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.">C0015967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Body temperature elevated above the normal range.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5169">Feature record</a> | <a href="/medgen?term=%22Fever%22%5BClinical%20Features%5D%20OR%205169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5690"><div><strong>Hyperhidrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5690</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.">C0020458</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5690">Feature record</a> | <a href="/medgen?term=%22Hyperhidrosis%22%5BClinical%20Features%5D%20OR%205690%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41600"><div><strong>Diplopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41600</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.">C0012569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41600">Feature record</a> | <a href="/medgen?term=%22Diplopia%22%5BClinical%20Features%5D%20OR%2041600%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fever</a></span></li></ul></li><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_1101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constipation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysphagia</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41600" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diplopia</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_38289" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Urinary retention</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_5690" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperhidrosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8511" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal autonomic nervous system physiology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341885" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cortex with spongiform changes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dementia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_214589" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Insomnia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342515" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal loss in central nervous system</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_2009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apnea</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weight loss</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><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5679775[DISCUI]&test_type=Clinical" ref="ncbi_uid=1826145">C</a></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/NBK1229/" ref="ncbi_uid=1826145">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1826145" ref="ncbi_uid=1826145">V</a></span></span><span class="TLline"><a href="/medgen/1826145" ref="tree=GTR&ncbi_uid=1826145&link_uid=1826145" title="View MedGen record for 'Inherited prion disease'">Inherited prion disease</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0206042[DISCUI]&test_type=Clinical" ref="ncbi_uid=104768">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=104768" target="_blank" href="/omim/176640">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1229/" ref="ncbi_uid=104768">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=104768" ref="ncbi_uid=104768">V</a></span></span><span class="TLline">Fatal familial insomnia</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017495[DISCUI]&test_type=Clinical" ref="ncbi_uid=4886">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=4886" target="_blank" href="/omim/137440">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1229/" ref="ncbi_uid=4886">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=4886" ref="ncbi_uid=4886">V</a></span></span><span class="TLline"><a href="/medgen/4886" ref="tree=GTR&ncbi_uid=4886&link_uid=4886" title="View MedGen record for 'Gerstmann-Straussler-Scheinker syndrome'">Gerstmann-Straussler-Scheinker syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751254[DISCUI]&test_type=Clinical" ref="ncbi_uid=155837">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=155837" target="_blank" href="/omim/123400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1229/" ref="ncbi_uid=155837">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=155837" ref="ncbi_uid=155837">V</a></span></span><span class="TLline"><a href="/medgen/155837" ref="tree=GTR&ncbi_uid=155837&link_uid=155837" title="View MedGen record for 'Inherited Creutzfeldt-Jakob disease'">Inherited Creutzfeldt-Jakob disease</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1826145" ref="tree=MeSH" title="MedGen record for Inherited prion disease">Inherited prion disease</a></span><ul><li><span class="matched_ds">Fatal familial insomnia</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=810&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Fatal familial insomnia</span> in Orphanet.</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/35819418">Genetic counseling for prion disease: Updates and best practices.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldman JS,
|
||
Vallabh SM</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2022 Oct;24(10):1993-2003.
|
||
Epub 2022 Jul 12
|
||
doi: 10.1016/j.gim.2022.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35819418" target="_blank">35819418</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29941716">Expert Consensus on Clinical Diagnostic Criteria for Fatal Familial Insomnia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu LY,
|
||
Zhan SQ,
|
||
Huang ZY,
|
||
Zhang B,
|
||
Wang T,
|
||
Liu CF,
|
||
Lu H,
|
||
Dong XP,
|
||
Wu ZY,
|
||
Zhang JW,
|
||
Zhang JH,
|
||
Zhao ZX,
|
||
Han F,
|
||
Huang Y,
|
||
Lu J,
|
||
Gauthier S,
|
||
Jia JP,
|
||
Wang YP</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2018 Jul 5;131(13):1613-1617.
|
||
doi: 10.4103/0366-6999.235115.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29941716" target="_blank">29941716</a><a href="/pmc/articles/PMC6032681" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28110369">Neuroradiology of human prion diseases, diagnosis and differential diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaudino S,
|
||
Gangemi E,
|
||
Colantonio R,
|
||
Botto A,
|
||
Ruberto E,
|
||
Calandrelli R,
|
||
Martucci M,
|
||
Vita MG,
|
||
Masullo C,
|
||
Cerase A,
|
||
Colosimo C</span><br />
|
||
<span class="medgenPMjournal">Radiol Med</span>
|
||
2017 May;122(5):369-385.
|
||
Epub 2017 Jan 21
|
||
doi: 10.1007/s11547-017-0725-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28110369" target="_blank">28110369</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22fatal%20familial%20insomnia%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 (13)</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/37088611">Human prion diseases: An overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piñar-Morales R,
|
||
Barrero-Hernández F,
|
||
Aliaga-Martínez L</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2023 Jun 23;160(12):554-560.
|
||
Epub 2023 Apr 21
|
||
doi: 10.1016/j.medcli.2023.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37088611" target="_blank">37088611</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33386648">Neuro-Ophthalmological Findings in Early Fatal Familial Insomnia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mastrangelo V,
|
||
Merli E,
|
||
Rucker JC,
|
||
Eggenberger ER,
|
||
Zee DS,
|
||
Cortelli P</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2021 Apr;89(4):823-827.
|
||
Epub 2021 Jan 11
|
||
doi: 10.1002/ana.26008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33386648" target="_blank">33386648</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31533183">Prion Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baldwin KJ,
|
||
Correll CM</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2019 Aug;39(4):428-439.
|
||
Epub 2019 Sep 18
|
||
doi: 10.1055/s-0039-1687841.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31533183" target="_blank">31533183</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26633779">Prion Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geschwind MD</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2015 Dec;21(6 Neuroinfectious Disease):1612-38.
|
||
doi: 10.1212/CON.0000000000000251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26633779" target="_blank">26633779</a><a href="/pmc/articles/PMC4879966" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20938044">The prion diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown K,
|
||
Mastrianni JA</span><br />
|
||
<span class="medgenPMjournal">J Geriatr Psychiatry Neurol</span>
|
||
2010 Dec;23(4):277-98.
|
||
Epub 2010 Oct 11
|
||
doi: 10.1177/0891988710383576.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20938044" target="_blank">20938044</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatal%20familial%20insomnia%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 (94)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37088611">Human prion diseases: An overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piñar-Morales R,
|
||
Barrero-Hernández F,
|
||
Aliaga-Martínez L</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2023 Jun 23;160(12):554-560.
|
||
Epub 2023 Apr 21
|
||
doi: 10.1016/j.medcli.2023.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37088611" target="_blank">37088611</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31533183">Prion Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baldwin KJ,
|
||
Correll CM</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2019 Aug;39(4):428-439.
|
||
Epub 2019 Sep 18
|
||
doi: 10.1055/s-0039-1687841.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31533183" target="_blank">31533183</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28987186">Prion diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ironside JW,
|
||
Ritchie DL,
|
||
Head MW</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2017;145:393-403.
|
||
doi: 10.1016/B978-0-12-802395-2.00028-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28987186" target="_blank">28987186</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26633779">Prion Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geschwind MD</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2015 Dec;21(6 Neuroinfectious Disease):1612-38.
|
||
doi: 10.1212/CON.0000000000000251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26633779" target="_blank">26633779</a><a href="/pmc/articles/PMC4879966" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20938044">The prion diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown K,
|
||
Mastrianni JA</span><br />
|
||
<span class="medgenPMjournal">J Geriatr Psychiatry Neurol</span>
|
||
2010 Dec;23(4):277-98.
|
||
Epub 2010 Oct 11
|
||
doi: 10.1177/0891988710383576.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20938044" target="_blank">20938044</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatal%20familial%20insomnia%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 (165)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34209482">MicroRNAs in Prion Diseases-From Molecular Mechanisms to Insights in Translational Medicine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Contiliani DF,
|
||
Ribeiro YA,
|
||
de Moraes VN,
|
||
Pereira TC</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2021 Jun 29;10(7)
|
||
doi: 10.3390/cells10071620.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34209482" target="_blank">34209482</a><a href="/pmc/articles/PMC8307047" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28976233">A review of drug therapy for sporadic fatal insomnia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tabaee Damavandi P,
|
||
Dove MT,
|
||
Pickersgill RW</span><br />
|
||
<span class="medgenPMjournal">Prion</span>
|
||
2017 Sep 3;11(5):293-299.
|
||
doi: 10.1080/19336896.2017.1368937.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28976233" target="_blank">28976233</a><a href="/pmc/articles/PMC5639864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27364252">Human prion diseases: surgical lessons learned from iatrogenic prion transmission.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonda DJ,
|
||
Manjila S,
|
||
Mehndiratta P,
|
||
Khan F,
|
||
Miller BR,
|
||
Onwuzulike K,
|
||
Puoti G,
|
||
Cohen ML,
|
||
Schonberger LB,
|
||
Cali I</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Focus</span>
|
||
2016 Jul;41(1):E10.
|
||
doi: 10.3171/2016.5.FOCUS15126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27364252" target="_blank">27364252</a><a href="/pmc/articles/PMC5082740" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22455303">Aluminium phosphide poisoning: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hirani SA,
|
||
Rahman A</span><br />
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2010 Oct-Dec;22(4):221-2.
|
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<span class="bold">PMID: </span><a href="/pubmed/22455303" target="_blank">22455303</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17406188">Self management of fatal familial insomnia. Part 1: what is FFI?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Schenkein J,
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<span class="medgenPMjournal">MedGenMed</span>
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2006 Sep 14;8(3):65.
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<span class="bold">PMID: </span><a href="/pubmed/17406188" target="_blank">17406188</a><a href="/pmc/articles/PMC1781306" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatal%20familial%20insomnia%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 (22)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37088611">Human prion diseases: An overview.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Piñar-Morales R,
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Barrero-Hernández F,
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Aliaga-Martínez L</span><br />
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<span class="medgenPMjournal">Med Clin (Barc)</span>
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2023 Jun 23;160(12):554-560.
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Epub 2023 Apr 21
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doi: 10.1016/j.medcli.2023.03.001.
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<span class="bold">PMID: </span><a href="/pubmed/37088611" target="_blank">37088611</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24488737">Sporadic fatal insomnia in an adolescent.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Blase JL,
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Cracco L,
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Schonberger LB,
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Maddox RA,
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Cohen Y,
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2014 Mar;133(3):e766-70.
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Epub 2014 Feb 2
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<span class="bold">PMID: </span><a href="/pubmed/24488737" target="_blank">24488737</a><a href="/pmc/articles/PMC3934327" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
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<div class="nl"><a target="_blank" href="/pubmed/21621879">Structural and functional neuroimaging in human prion diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ortega-Cubero S,
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Luquín MR,
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Domínguez I,
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Arbizu J,
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<span class="bold">PMID: </span><a href="/pubmed/21621879" target="_blank">21621879</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17116956">Fatal familial insomnia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gistau VS,
|
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Pintor L,
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Matrai S,
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Saiz A</span><br />
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<span class="medgenPMjournal">Psychosomatics</span>
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2006 Nov-Dec;47(6):527-8.
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doi: 10.1176/appi.psy.47.6.527.
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<span class="bold">PMID: </span><a href="/pubmed/17116956" target="_blank">17116956</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/14978149">Prion diseases.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Knight RS,
|
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Will RG</span><br />
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<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
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2004 Mar;75 Suppl 1(Suppl 1):i36-42.
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<span class="bold">PMID: </span><a href="/pubmed/14978149" target="_blank">14978149</a><a href="/pmc/articles/PMC1765647" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatal%20familial%20insomnia%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 (79)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37302168">Sleep in Gerstmann-Straüssler-Scheinker disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pérez-Carbonell L,
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Sarto J,
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Gaig C,
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Muñoz-Lopetegi A,
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Ruiz-García R,
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Naranjo L,
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Augé JM,
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Perissinotti A,
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Santamaria J,
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Iranzo A,
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<span class="medgenPMjournal">Sleep Med</span>
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2023 Aug;108:11-15.
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Epub 2023 May 22
|
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doi: 10.1016/j.sleep.2023.05.010.
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<span class="bold">PMID: </span><a href="/pubmed/37302168" target="_blank">37302168</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36182725">Sleep architecture and sleep-disordered breathing in fatal insomnia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pérez-Carbonell L,
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Muñoz-Lopetegi A,
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Sánchez-Valle R,
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Gelpi E,
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Farré R,
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Gaig C,
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Iranzo A,
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<span class="medgenPMjournal">Sleep Med</span>
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2022 Dec;100:311-346.
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Epub 2022 Sep 20
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doi: 10.1016/j.sleep.2022.08.027.
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||
<span class="bold">PMID: </span><a href="/pubmed/36182725" target="_blank">36182725</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26146026">Cardiovascular autonomic dysfunctions and sleep disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Calandra-Buonaura G,
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Provini F,
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Guaraldi P,
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Plazzi G,
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Cortelli P</span><br />
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<span class="medgenPMjournal">Sleep Med Rev</span>
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2016 Apr;26:43-56.
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Epub 2015 Jun 3
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doi: 10.1016/j.smrv.2015.05.005.
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<span class="bold">PMID: </span><a href="/pubmed/26146026" target="_blank">26146026</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22136896">Agrypnia excitata.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lugaresi E,
|
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Provini F,
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||
Cortelli P</span><br />
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||
<span class="medgenPMjournal">Sleep Med</span>
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2011 Dec;12 Suppl 2:S3-10.
|
||
doi: 10.1016/j.sleep.2011.10.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22136896" target="_blank">22136896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7767490">Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gambetti P,
|
||
Parchi P,
|
||
Petersen RB,
|
||
Chen SG,
|
||
Lugaresi E</span><br />
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||
<span class="medgenPMjournal">Brain Pathol</span>
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||
1995 Jan;5(1):43-51.
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||
doi: 10.1111/j.1750-3639.1995.tb00576.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7767490" target="_blank">7767490</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatal%20familial%20insomnia%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 (81)</a></div></div>
|
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|
||
|
||
<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/31871824">Movement Disorders in Prionopathies: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodriguez-Porcel F,
|
||
Ciarlariello VB,
|
||
Dwivedi AK,
|
||
Lovera L,
|
||
Da Prat G,
|
||
Lopez-Castellanos R,
|
||
Suri R,
|
||
Laub H,
|
||
Walker RH,
|
||
Barsottini O,
|
||
Pedroso JL,
|
||
Espay AJ</span><br />
|
||
<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
|
||
2019;9
|
||
Epub 2019 Dec 12
|
||
doi: 10.7916/tohm.v0.712.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31871824" target="_blank">31871824</a><a href="/pmc/articles/PMC6925394" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatal%20familial%20insomnia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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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=C0206042%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C0206042%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (18)</a></li>
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<li><a href="/gtr/tests?term=C0206042%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0206042%5bDISCUI%5d" target="_blank">See all (19)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22fatal%20familial%20insomnia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Fatal%20familial%20insomnia%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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<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=176640" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5621[geneid]" target="_blank">View PRNP variations in ClinVar</a></li><li><a href="/nuccore/216547727" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=600072" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Fatal+Familial+Insomnia/2793" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/fatal_familial_insomnia" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Fatal%20familial%20insomnia" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/prion-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6429/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/clinical?term=Fatal%20familial%20insomnia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Fatal%20familial%20insomnia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<div class="ralinkpop offscreen_noflow">PRNP prion protein (Kanno blood group) [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:5621</div></div>
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