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<meta name="keywords" content="C1853198, ciss2, clcf1, clcf1 cold-induced sweating syndrome, clcf1-related cold-induced sweating syndrome including crisponi syndrome, cold-induced sweating syndrome 2, cold-induced sweating syndrome caused by mutation in clcf1, cold-induced sweating syndrome type 2, crisponi/cold-induced sweating syndrome 2, crisponi/cold-induced sweating syndrome-2, disease or syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Cold-induced sweating syndrome (CISS) and its infantile presentation, Crisponi syndrome(CS) is characterized by dysmorphic features (distinctive facies, lower facial weakness, flexion deformity at the elbows, camptodactyly with fisted hands, misshapen feet, and overriding toes); intermittent contracture of facial and oropharyngeal muscles when crying or being handled with puckering of lips and drooling of foamy saliva often associated with laryngospasm and respiratory distress; excessive startling and opisthotonus-like posturing with unexpected tactile or auditory stimuli; poor suck reflex and severely impaired swallowing; and a scaly erythematous rash. During the first decade of life, children with CISS/CS develop profuse sweating of the face, arms, and chest with ambient temperatures below 18º to 22º C, and with other stimuli including nervousness or ingestion of sweets. Affected individuals sweat very little in hot environments and may feel overheated. Progressive thoracolumbar kyphoscoliosis occurs, requiring intervention in the second decade." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=342816
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ConceptID=C1853198
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-->
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<!--imgCountBooks = 3--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (3)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK52917/bin/ciss-Image003.gif" src-large="/books/NBK52917/bin/ciss-Image003.jpg" /></a><br /><a href="/books/NBK52917/figure/ciss.F3/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK52917/bin/ciss-Image002.gif" src-large="/books/NBK52917/bin/ciss-Image002.jpg" /></a><br /><a href="/books/NBK52917/figure/ciss.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK52917/bin/ciss-Image001.gif" src-large="/books/NBK52917/bin/ciss-Image001.jpg" /></a><br /><a href="/books/NBK52917/figure/ciss.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Cold-induced sweating syndrome 2<span class="h1sub">(CISS2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342816</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.">C1853198</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CISS2; CLCF1-Related Cold-Induced Sweating Syndrome including Crisponi Syndrome; CRISPONI/COLD-INDUCED SWEATING SYNDROME 2</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="CLCF1 - ID: 23529 - NCBI Gene" href="/gene/23529" class="medgenPMinfo">CLCF1</a> (11q13.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012467" target="_blank">MONDO:0012467</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/610313" target="_blank">610313</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK52917" target="_blank">Cold-Induced Sweating Syndrome Including Crisponi Syndrome</a></div><div>Cold-induced sweating syndrome (CISS) and its infantile presentation, Crisponi syndrome(CS) is characterized by dysmorphic features (distinctive facies, lower facial weakness, flexion deformity at the elbows, camptodactyly with fisted hands, misshapen feet, and overriding toes); intermittent contracture of facial and oropharyngeal muscles when crying or being handled with puckering of lips and drooling of foamy saliva often associated with laryngospasm and respiratory distress; excessive startling and opisthotonus-like posturing with unexpected tactile or auditory stimuli; poor suck reflex and severely impaired swallowing; and a scaly erythematous rash. During the first decade of life, children with CISS/CS develop profuse sweating of the face, arms, and chest with ambient temperatures below 18º to 22º C, and with other stimuli including nervousness or ingestion of sweets. Affected individuals sweat very little in hot environments and may feel overheated. Progressive thoracolumbar kyphoscoliosis occurs, requiring intervention in the second decade. [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/NBK52917#ciss.Summary" target="NBK52917">Summary</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Diagnosis" target="NBK52917">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Clinical_Characteristics" target="NBK52917">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Genetically_Related_Allelic_Disorde" target="NBK52917">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Differential_Diagnosis" target="NBK52917">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Management" target="NBK52917">Management</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Genetic_Counseling" target="NBK52917">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Resources" target="NBK52917">Resources</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Molecular_Genetics" target="NBK52917">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.Chapter_Notes" target="NBK52917">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK52917#ciss.References" target="NBK52917">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Angelika F Hahn | Per Morten Knappskog <a href="/books/NBK52917" target="NBK52917" title="NCBI Bookshelf: Cold-Induced Sweating Syndrome Including Crisponi Syndrome">view full author information</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<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 />Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Buers et al. (2020) provided a detailed review of Crisponi/CISS, including clinical features and evolution of the disease, noting that signs and symptoms in infancy can be severe and result in early death; clinical and genetic diagnoses. The authors also discussed pathogenesis, differential diagnosis, and recommended management and treatment.
|
||
Buers et al. (2020) provided a detailed review of Crisponi/CISS, including clinical features, diagnosis, and evolution of the disease, differential diagnosis, pathogenesis, and recommended management and treatment.
|
||
For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (272430). <a target="_blank" href="http://www.omim.org/entry/610313">http://www.omim.org/entry/610313</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Cold-induced sweating syndrome is characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body. In infancy, the features of this condition are often known as Crisponi syndrome. Researchers originally thought that cold-induced sweating syndrome and Crisponi syndrome were separate disorders, but it is now widely believed that they represent the same condition at different times during life.<br /><br />Infants with Crisponi syndrome have unusual facial features, including a flat nasal bridge, upturned nostrils, a long space between the nose and upper lip (philtrum), a high arched roof of the mouth (palate), a small chin (micrognathia), and low-set ears. The muscles in the lower part of the face are weak, leading to severe feeding difficulties, excessive drooling, and breathing problems. Other physical abnormalities associated with Crisponi syndrome include a scaly skin rash, an inability to fully extend the elbows, overlapping fingers and tightly fisted hands, and malformations of the feet and toes. Affected infants startle easily and often tense their facial muscles into a grimace-like expression. By six months of age, infants with Crisponi syndrome develop unexplained high fevers that increase the risk of seizures and sudden death.<br /><br />Many of the health problems associated with Crisponi syndrome improve with time, and affected individuals who survive the newborn period go on to develop other features of cold-induced sweating syndrome in early childhood. Within the first decade of life, affected individuals begin having episodes of profuse sweating (hyperhidrosis) and shivering involving the face, torso, and arms. The excessive sweating is usually triggered by exposure to temperatures below about 65 or 70 degrees Fahrenheit, but it can also be triggered by nervousness or eating sugary foods. Paradoxically, affected individuals tend not to sweat in warmer conditions, instead becoming flushed and overheated in hot environments.<br /><br />Adolescents with cold-induced sweating syndrome typically develop abnormal side-to-side and front-to-back curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). Although infants may develop life-threatening fevers, affected individuals who survive infancy have a normal life expectancy. <a target="_blank" href="https://medlineplus.gov/genetics/condition/cold-induced-sweating-syndrome">https://medlineplus.gov/genetics/condition/cold-induced-sweating-syndrome</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_490152"><div><strong>Cubitus valgus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>490152</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.">C0158465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal positioning in which the elbows are turned out.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Cubitus%20valgus%22%5BClinical%20Features%5D%20OR%20490152%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_401158"><div><strong>Limited elbow extension</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401158</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.">C1867103</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Limited ability to straighten the arm at the elbow joint.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/401158">Feature record</a> | <a href="/medgen?term=%22Limited%20elbow%20extension%22%5BClinical%20Features%5D%20OR%20401158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644094"><div><strong>Clinodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644094</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.">C4551485</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644094">Feature record</a> | <a href="/medgen?term=%22Clinodactyly%22%5BClinical%20Features%5D%20OR%201644094%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1645640"><div><strong>2-3 toe syndactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645640</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.">C4551570</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndactyly with fusion of toes two and three.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645640">Feature record</a> | <a href="/medgen?term=%222-3%20toe%20syndactyly%22%5BClinical%20Features%5D%20OR%201645640%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343309"><div><strong>Protruding ear</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343309</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.">C1855285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343309">Feature record</a> | <a href="/medgen?term=%22Protruding%20ear%22%5BClinical%20Features%5D%20OR%20343309%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_207266"><div><strong>Sensorimotor neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>207266</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.">C1112256</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/207266">Feature record</a> | <a href="/medgen?term=%22Sensorimotor%20neuropathy%22%5BClinical%20Features%5D%20OR%20207266%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98103"><div><strong>Weakness of facial musculature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98103</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.">C0427055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98103">Feature record</a> | <a href="/medgen?term=%22Weakness%20of%20facial%20musculature%22%5BClinical%20Features%5D%20OR%2098103%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196671"><div><strong>Thoracolumbar scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196671</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.">C0749379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196671">Feature record</a> | <a href="/medgen?term=%22Thoracolumbar%20scoliosis%22%5BClinical%20Features%5D%20OR%20196671%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_263149"><div><strong>Lumbar hyperlordosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>263149</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.">C1184923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal accentuation of the inward curvature of the spine in the lumbar region.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/263149">Feature record</a> | <a href="/medgen?term=%22Lumbar%20hyperlordosis%22%5BClinical%20Features%5D%20OR%20263149%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</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.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1370740"><div><strong>Cold-induced sweating</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1370740</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.">C4476686</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sweating provoked by cold temperature rather than by heat.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1370740">Feature record</a> | <a href="/medgen?term=%22Cold-induced%20sweating%22%5BClinical%20Features%5D%20OR%201370740%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1645640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">2-3 toe syndactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clinodactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_490152" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cubitus valgus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_401158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limited elbow extension</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_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</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_1370740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cold-induced sweating</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_263149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lumbar hyperlordosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thoracolumbar scoliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weakness of facial musculature</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_207266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensorimotor neuropathy</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343309" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Protruding ear</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832409[DISCUI]&test_type=Clinical" ref="ncbi_uid=321950">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=321950" target="_blank" href="/omim/272430">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK52917/" ref="ncbi_uid=321950">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=321950" ref="ncbi_uid=321950">V</a></span></span><span class="TLline"><a href="/medgen/321950" ref="tree=GTR&ncbi_uid=321950&link_uid=321950" title="View MedGen record for 'Cold-induced sweating syndrome'">Cold-induced sweating syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848947[DISCUI]&test_type=Clinical" ref="ncbi_uid=338577">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338577" target="_blank" href="/omim/272430">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK52917/" ref="ncbi_uid=338577">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338577" ref="ncbi_uid=338577">V</a></span></span><span class="TLline"><a href="/medgen/338577" ref="tree=GTR&ncbi_uid=338577&link_uid=338577" title="View MedGen record for 'Cold-induced sweating syndrome 1'">Cold-induced sweating syndrome 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853198[DISCUI]&test_type=Clinical" ref="ncbi_uid=342816">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342816" target="_blank" href="/omim/607672">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK52917/" ref="ncbi_uid=342816">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=342816" ref="ncbi_uid=342816">V</a></span></span><span class="TLline">Cold-induced sweating syndrome 2</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310742[DISCUI]&test_type=Clinical" ref="ncbi_uid=934709">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934709" target="_blank" href="/omim/611119">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934709" ref="ncbi_uid=934709">V</a></span></span><span class="TLline"><a href="/medgen/934709" ref="tree=GTR&ncbi_uid=934709&link_uid=934709" title="View MedGen record for 'PERCHING syndrome'">PERCHING syndrome</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/1842440" ref="tree=MeSH" title="MedGen record for Cold-induced sweating syndrome - hyperthermia spectrum">Cold-induced sweating syndrome - hyperthermia spectrum</a></span><ul><li><span class="TLline"><a href="/medgen/321950" ref="tree=MeSH" title="MedGen record for Cold-induced sweating syndrome">Cold-induced sweating syndrome</a></span><ul><li><span class="matched_ds">Cold-induced sweating syndrome 2</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31497877">Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buers I,
|
||
Persico I,
|
||
Schöning L,
|
||
Nitschke Y,
|
||
Di Rocco M,
|
||
Loi A,
|
||
Sahi PK,
|
||
Utine GE,
|
||
Bayraktar-Tanyeri B,
|
||
Zampino G,
|
||
Crisponi G,
|
||
Rutsch F,
|
||
Crisponi L</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2020 Jan;97(1):209-221.
|
||
Epub 2019 Sep 16
|
||
doi: 10.1111/cge.13639.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31497877" target="_blank">31497877</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cold-induced%20sweating%20syndrome%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26565815">Warmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Testani E,
|
||
Della Marca G,
|
||
La Torraca I,
|
||
Vollono C,
|
||
Crisponi G,
|
||
Zampino G,
|
||
Valeriani M</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2016 Jun;54(1):100-3.
|
||
Epub 2016 Feb 26
|
||
doi: 10.1002/mus.24976.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26565815" target="_blank">26565815</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20400119">Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hahn AF,
|
||
Waaler PE,
|
||
Kvistad PH,
|
||
Bamforth JS,
|
||
Miles JH,
|
||
McLeod JG,
|
||
Knappskog PM,
|
||
Boman H</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2010 Jun 15;293(1-2):68-75.
|
||
Epub 2010 Apr 18
|
||
doi: 10.1016/j.jns.2010.02.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20400119" target="_blank">20400119</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20187881">Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herholz J,
|
||
Crisponi L,
|
||
Mallick BN,
|
||
Rutsch F</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2010 May;52(5):494-7.
|
||
Epub 2010 Feb 24
|
||
doi: 10.1111/j.1469-8749.2010.03630.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20187881" target="_blank">20187881</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17436252">Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crisponi L,
|
||
Crisponi G,
|
||
Meloni A,
|
||
Toliat MR,
|
||
Nurnberg G,
|
||
Usala G,
|
||
Uda M,
|
||
Masala M,
|
||
Hohne W,
|
||
Becker C,
|
||
Marongiu M,
|
||
Chiappe F,
|
||
Kleta R,
|
||
Rauch A,
|
||
Wollnik B,
|
||
Strasser F,
|
||
Reese T,
|
||
Jakobs C,
|
||
Kurlemann G,
|
||
Cao A,
|
||
Nurnberg P,
|
||
Rutsch F</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2007 May;80(5):971-81.
|
||
Epub 2007 Mar 30
|
||
doi: 10.1086/516843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17436252" target="_blank">17436252</a><a href="/pmc/articles/PMC1852730" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cold-induced%20sweating%20syndrome%202%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35102033">Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akleyin E,
|
||
Yeniçeri Özata M,
|
||
Crisponi G</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2022 Jul 1;31(3):136-140.
|
||
Epub 2022 Jan 31
|
||
doi: 10.1097/MCD.0000000000000413.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35102033" target="_blank">35102033</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31497877">Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buers I,
|
||
Persico I,
|
||
Schöning L,
|
||
Nitschke Y,
|
||
Di Rocco M,
|
||
Loi A,
|
||
Sahi PK,
|
||
Utine GE,
|
||
Bayraktar-Tanyeri B,
|
||
Zampino G,
|
||
Crisponi G,
|
||
Rutsch F,
|
||
Crisponi L</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2020 Jan;97(1):209-221.
|
||
Epub 2019 Sep 16
|
||
doi: 10.1111/cge.13639.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31497877" target="_blank">31497877</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30859550">Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Angius A,
|
||
Uva P,
|
||
Oppo M,
|
||
Buers I,
|
||
Persico I,
|
||
Onano S,
|
||
Cuccuru G,
|
||
Van Allen MI,
|
||
Hulait G,
|
||
Aubertin G,
|
||
Muntoni F,
|
||
Fry AE,
|
||
Annerén G,
|
||
Stattin EL,
|
||
Palomares-Bralo M,
|
||
Santos-Simarro F,
|
||
Cucca F,
|
||
Crisponi G,
|
||
Rutsch F,
|
||
Crisponi L</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2019 May;95(5):607-614.
|
||
Epub 2019 Mar 28
|
||
doi: 10.1111/cge.13532.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30859550" target="_blank">30859550</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20187881">Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herholz J,
|
||
Crisponi L,
|
||
Mallick BN,
|
||
Rutsch F</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2010 May;52(5):494-7.
|
||
Epub 2010 Feb 24
|
||
doi: 10.1111/j.1469-8749.2010.03630.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20187881" target="_blank">20187881</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14598344">Crisponi syndrome: report of a further patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Accorsi P,
|
||
Giordano L,
|
||
Faravelli F</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2003 Dec 1;123A(2):183-5.
|
||
doi: 10.1002/ajmg.a.20292.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14598344" target="_blank">14598344</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cold-induced%20sweating%20syndrome%202%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 (20)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29189552">Autonomic Reflex Screen Test Abnormalities in Cold-Induced Sweating Syndrome Type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Dokla AM,
|
||
Ferdous J,
|
||
Ali ST,
|
||
Alam K</span><br />
|
||
<span class="medgenPMjournal">J Clin Neuromuscul Dis</span>
|
||
2017 Dec;19(2):76-79.
|
||
doi: 10.1097/CND.0000000000000184.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29189552" target="_blank">29189552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20400119">Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hahn AF,
|
||
Waaler PE,
|
||
Kvistad PH,
|
||
Bamforth JS,
|
||
Miles JH,
|
||
McLeod JG,
|
||
Knappskog PM,
|
||
Boman H</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2010 Jun 15;293(1-2):68-75.
|
||
Epub 2010 Apr 18
|
||
doi: 10.1016/j.jns.2010.02.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20400119" target="_blank">20400119</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20187881">Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herholz J,
|
||
Crisponi L,
|
||
Mallick BN,
|
||
Rutsch F</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2010 May;52(5):494-7.
|
||
Epub 2010 Feb 24
|
||
doi: 10.1111/j.1469-8749.2010.03630.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20187881" target="_blank">20187881</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20186812">Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamazaki M,
|
||
Kosho T,
|
||
Kawachi S,
|
||
Mikoshiba M,
|
||
Takahashi J,
|
||
Sano R,
|
||
Oka K,
|
||
Yoshida K,
|
||
Watanabe T,
|
||
Kato H,
|
||
Komatsu M,
|
||
Kawamura R,
|
||
Wakui K,
|
||
Knappskog PM,
|
||
Boman H,
|
||
Fukushima Y</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2010 Mar;152A(3):764-9.
|
||
doi: 10.1002/ajmg.a.33315.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20186812" target="_blank">20186812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17436252">Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crisponi L,
|
||
Crisponi G,
|
||
Meloni A,
|
||
Toliat MR,
|
||
Nurnberg G,
|
||
Usala G,
|
||
Uda M,
|
||
Masala M,
|
||
Hohne W,
|
||
Becker C,
|
||
Marongiu M,
|
||
Chiappe F,
|
||
Kleta R,
|
||
Rauch A,
|
||
Wollnik B,
|
||
Strasser F,
|
||
Reese T,
|
||
Jakobs C,
|
||
Kurlemann G,
|
||
Cao A,
|
||
Nurnberg P,
|
||
Rutsch F</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2007 May;80(5):971-81.
|
||
Epub 2007 Mar 30
|
||
doi: 10.1086/516843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17436252" target="_blank">17436252</a><a href="/pmc/articles/PMC1852730" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cold-induced%20sweating%20syndrome%202%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24488861">Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piras R,
|
||
Chiappe F,
|
||
Torraca IL,
|
||
Buers I,
|
||
Usala G,
|
||
Angius A,
|
||
Akin MA,
|
||
Basel-Vanagaite L,
|
||
Benedicenti F,
|
||
Chiodin E,
|
||
El Assy O,
|
||
Feingold-Zadok M,
|
||
Guibert J,
|
||
Kamien B,
|
||
Kasapkara CS,
|
||
Kiliç E,
|
||
Boduroğlu K,
|
||
Kurtoglu S,
|
||
Manzur AY,
|
||
Onal EE,
|
||
Paderi E,
|
||
Roche CH,
|
||
Tümer L,
|
||
Unal S,
|
||
Utine GE,
|
||
Zanda G,
|
||
Zankl A,
|
||
Zampino G,
|
||
Crisponi G,
|
||
Crisponi L,
|
||
Rutsch F</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2014 Apr;35(4):424-33.
|
||
Epub 2014 Mar 6
|
||
doi: 10.1002/humu.22522.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24488861" target="_blank">24488861</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24032286">Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uzunalic N,
|
||
Zenciroglu A,
|
||
Beken S,
|
||
Piras R,
|
||
Dilli D,
|
||
Aydin B,
|
||
Chiappe F,
|
||
Okumus N,
|
||
Crisponi L</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
2013;24(2):161-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24032286" target="_blank">24032286</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22381110">Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dessì A,
|
||
Fanos V,
|
||
Crisponi G,
|
||
Frau A,
|
||
Ottonello G</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol Res</span>
|
||
2012 Mar;38(3):582-5.
|
||
Epub 2012 Feb 16
|
||
doi: 10.1111/j.1447-0756.2011.01741.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22381110" target="_blank">22381110</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20187881">Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herholz J,
|
||
Crisponi L,
|
||
Mallick BN,
|
||
Rutsch F</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2010 May;52(5):494-7.
|
||
Epub 2010 Feb 24
|
||
doi: 10.1111/j.1469-8749.2010.03630.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20187881" target="_blank">20187881</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14598344">Crisponi syndrome: report of a further patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Accorsi P,
|
||
Giordano L,
|
||
Faravelli F</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2003 Dec 1;123A(2):183-5.
|
||
doi: 10.1002/ajmg.a.20292.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14598344" target="_blank">14598344</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cold-induced%20sweating%20syndrome%202%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39336700">Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Onesimo R,
|
||
Sforza E,
|
||
Palermo F,
|
||
Giorgio V,
|
||
Leoni C,
|
||
Rigante D,
|
||
Trevisan V,
|
||
Agazzi C,
|
||
Limongelli D,
|
||
Proli F,
|
||
Kuczynska EM,
|
||
Crisponi L,
|
||
Crisponi G,
|
||
Zampino G</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2024 Aug 23;15(9)
|
||
doi: 10.3390/genes15091109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39336700" target="_blank">39336700</a><a href="/pmc/articles/PMC11431494" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35984556">Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">A R,
|
||
Chandran S,
|
||
Ghatak AR,
|
||
Thomas N,
|
||
Danda S</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2022 Nov;89(11):1148-1150.
|
||
Epub 2022 Aug 19
|
||
doi: 10.1007/s12098-022-04263-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35984556" target="_blank">35984556</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35699517">Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yilmaz Gulec E,
|
||
Turgut GT,
|
||
Gezdirici A,
|
||
Karaman V,
|
||
Ozturk FN,
|
||
Avci S,
|
||
Kalayci T,
|
||
Senturk L,
|
||
Ayaz A,
|
||
Kayserili H,
|
||
Uyguner ZO,
|
||
Altunoğlu U</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2022 Sep;102(3):201-217.
|
||
Epub 2022 Jul 12
|
||
doi: 10.1111/cge.14177.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35699517" target="_blank">35699517</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22381110">Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dessì A,
|
||
Fanos V,
|
||
Crisponi G,
|
||
Frau A,
|
||
Ottonello G</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol Res</span>
|
||
2012 Mar;38(3):582-5.
|
||
Epub 2012 Feb 16
|
||
doi: 10.1111/j.1447-0756.2011.01741.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22381110" target="_blank">22381110</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20400119">Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hahn AF,
|
||
Waaler PE,
|
||
Kvistad PH,
|
||
Bamforth JS,
|
||
Miles JH,
|
||
McLeod JG,
|
||
Knappskog PM,
|
||
Boman H</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2010 Jun 15;293(1-2):68-75.
|
||
Epub 2010 Apr 18
|
||
doi: 10.1016/j.jns.2010.02.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20400119" target="_blank">20400119</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cold-induced%20sweating%20syndrome%202%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 (8)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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</div>
|
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|
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1853198%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1853198%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1853198%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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</ul></div>
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=610313" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Cold-induced%20sweating%20syndrome%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=(cold-induced%20sweating%20syndrome%202)%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></ul></div>
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=607672" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=23529[geneid]" target="_blank">View CLCF1 variations in ClinVar</a></li><li><a href="/nuccore/262359933" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=610313" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Cold-induced+sweating+syndrome+2/8001" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/crisponi_cold_induced_sweating_syndrome_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Cold-induced%20sweating%20syndrome%202" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/cold-induced-sweating-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18277/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
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<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Reviews</h3>
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</div>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/21370513" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Cold-induced%20sweating%20syndrome%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Cold-induced%20sweating%20syndrome%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
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||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
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||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=342816" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=342816" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1853198[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1853198[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=342816" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=342816" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=342816" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=342816" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=342816" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=342816" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=342816" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=342816" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=342816" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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||
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<div class="portlet_content">
|
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<div id="HTDisplay" class="">
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
|
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<li>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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||
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<li>
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||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
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||
</li>
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<li>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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<li>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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