{"orpha":493342,"name":"Vibratory urticaria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Vibratory angioedema/urticaria"],"definition":"Vibratory urticaria is a rare, genetic urticaria characterized by the development of localized, short-lasting (resolving within 1 hour), pruritic, erythematous, edematous hives in response to repetitive frictional or vibratory stimulation of the skin, which in some cases is accompanied by facial flushing, headache or the sensation of a metallic taste. Concomitant local mast cell degranulation and increased histamine serum levels are additional typical findings.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-493342/","orphanet_url":"https://www.orpha.net/en/disease/detail/493342","names":{"fr":{"name":"Urticaire vibratoire","synonyms":["Urticaire/Angioedème vibratoire"],"definition":"Une condition génétique rare caractérisée par le développement d'une urticaire oedémateuse, érythémateuse, prurigineuse, localisée et de courte durée (se résolvant en une heure), en réponse à une stimulation vibratoire ou une friction répétitive de la peau, et s'accompagnant dans certains cas d'une bouffée vasomotrice au niveau du visage, d'une céphalée ou d'une sensation d'un goût métallique. Les signes typiques additionnels sont une dégranulation locale concomitante des mastocytes et une augmentation des taux sériques d'histamine."},"de":{"name":"Vibrationsurtikaria","synonyms":["Angioödem/Urtikaria durch Vibration","Vibratorisches Angioödem"],"definition":"Bei der Vibrationsurtikaria handelt es sich um eine seltene, genetisch bedingte Urtikaria, die durch die Entwicklung lokalisierter, kurz anhaltender (innerhalb von 1 Stunde abklingender), juckender, erythematöser, ödematöser Quaddeln als Reaktion auf wiederholte Reibungs- oder Vibrationsstimulation der Haut gekennzeichnet ist, die in einigen Fällen von Gesichtsrötung, Kopfschmerzen oder dem Gefühl eines metallischen Geschmacks begleitet wird. Eine begleitende lokale Mastzelldegranulation und erhöhte Histamin-Serumspiegel sind weitere typische Befunde."},"es":{"name":"Urticaria vibratoria","synonyms":["Angiodema/urticaria vibratorio"],"definition":"Es un tipo de urticaria de origen genético poco frecuente caracterizada por lesiones de urticaria localizada de corta duración (que se resuelven en 1 hora), pruriginosas, eritematosas y edematosas y que se desarrollan tras un estimulo friccional o vibratorio cutáneo repetido, que en algunos casos, se acompaña de eritema facial, cefaleas o de una sensación de sabor metálico.La degranulación mastocitaria local y el aumento de los niveles séricos de histamina son hallazgos característicos."},"it":{"name":"Orticaria da vibrazione","synonyms":["Orticaria/angioedema da vibrazione"],"definition":"L'orticaria da vibrazione è una forma genetica rara di orticaria, caratterizzata dalla presenza di un rash localizzato, di breve durata (che scompare nel giro di un'ora), pruriginoso, eritematoso ed edematoso, secondario a una stimolazione ripetitiva della cute dovuta allo sfregamento o alle vibrazioni. In alcuni pazienti si associa ad un arrossamento del viso, cefalea o sensazione di sapore metallico. Sono reperti caratteristici la degranulazione localizzata dei mastociti e l'innalzamento dei valori dell'istamina nel siero."},"nl":{"name":"Vibratoire urticaria","synonyms":["Urticaria door vibratie","Vibratoir angio-oedeem/urticaria"],"definition":"Vibratoire urticaria is een zeldzame, genetische urticaria, gekarakteriseerd door ontwikkeling van gelokaliseerde, kortstondige (verdwenen binnen 1 uur), pruritische, erythemateuze, oedemateuze galbulten als reactie op repetitieve wrijving of vibratie van de huid, in sommige gevallen vergezeld van blozen, hoofdpijn of het gevoel van een metaalachtige smaak. Bijkomende typische bevindingen zijn gelijktijdige degranulatie van lokale mestcellen en verhoogde histaminegehaltes in het serum."},"pt":{"name":"Urticária vibratória","synonyms":["Urticária/angioedema vibratória"]},"pl":{"name":"Pokrzywka wibracyjna","synonyms":["Vibratory angioedema/urticaria"],"definition":"*Pokrzywka wibracyjna jest rzadką, genetycznie uwarunkowaną pokrzywką, która charakteryzuje się występowaniem zlokalizowanego, krótkotrwałego (ustępującego w ciągu 1 godziny), swędzącego, wyprysku pokrzywkowego z obrzękiem i rumieniem, rozwijającego się w odpowiedzi na powtarzającą się stymulację skóry o charakterze tarcia lub wibracji, której w niektórych przypadkach towarzyszy zaczerwienienie twarzy, ból głowy lub metaliczny smak. Jednocześnie obserwuje się miejscową degranulację komórek tucznych i podwyższone stężenie histaminy w surowicy."},"cs":{"name":"Vibrační kopřivka","synonyms":["Vibratory angioedema/urticaria"]},"uk":{"name":"Вібраційна кропивянка","synonyms":["Вібраційний ангіоневротичний набряк/кропивянка"],"definition":"Vibratory urticaria is a rare, genetic urticaria characterized by the development of localized, short-lasting (resolving within 1 hour), pruritic, erythematous, edematous hives in response to repetitive frictional or vibratory stimulation of the skin, which in some cases is accompanied by facial flushing, headache or the sensation of a metallic taste. Concomitant local mast cell degranulation and increased histamine serum levels are additional typical findings."},"zh":{"name":"振动性荨麻疹","definition":"振动荨麻疹是一种罕见的遗传性荨麻疹，其特征是皮肤受到反复摩擦或振动刺激后出现局部、短时(1小时内消失)、瘙痒、红斑、水肿性荨麻疹，部分病例伴有面部潮红、头痛或金属味感觉。其他典型表现是同时伴有局部肥大细胞脱颗粒和组胺血清水平增高。"},"tr":{"name":"Titreşimli ürtiker"}},"xrefs":[{"source":"OMIM","code":"125630","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L50.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EB01.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1471948086"},{"source":"MONDO","code":"0007447","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7447","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000094482","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0157743","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9806","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10052571","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":493348,"name":"OBSOLETE: Vibratory angioedema","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":182734,"name":"Genetic urticaria","classifications":[156]},{"orpha":79384,"name":"Rare urticaria","classifications":[187,212]}],"children":[],"genes":[{"symbol":"ADGRE2","name":"adhesion G protein-coupled receptor E2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"26841242[PMID]","hgnc":"3337","ensembl":"ENSG00000127507","omim":"606100","loci":["19p13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":37.0,"area":"Worldwide","status":"Validated","source":"26841242[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26841242[PMID]"}],"phenotypes":null}