{"orpha":391389,"name":"Familial episodic pain syndrome with predominantly upper body involvement","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A subtype of familial episodic pain syndrome characterized by episodes of severe debilitating pain mainly affecting shoulders, thorax and arms (occasionally radiating to the abdomen and legs), triggered by fasting, fatigue, cold temperatures or physical exercise, which last for 60-90 min and respond poorly to conventional analgesia. Intense pain episodes are accompanied by dyspnea, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall and are followed by a period of exhaustion and somnolence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391389/","orphanet_url":"https://www.orpha.net/en/disease/detail/391389","names":{"fr":{"name":"Syndrome douloureux épisodique familial avec atteinte prédominante du haut du corps","definition":"Sous-type du syndrome douloureux épisodique familial caractérisé par des épisodes de douleur sévèrement débilitante affectant principalement les épaules, le thorax et les bras (irradiant parfois vers l'abdomen et les jambes), déclenchés par le jeûne, la fatigue, les températures froides ou l'exercice physique, persistant entre 60 et 90 minutes et répondant mal aux traitements analgésiques conventionnels. Les épisodes de douleur intense s'accompagnent de dyspnée, de tachycardie, de transpiration, de pâleur généralisée, de cyanose péribuccale et de rigidité abdominale, et sont suivis d'une période d'épuisement et de somnolence."},"de":{"name":"Familiäres episodisches Schmerzsyndrom mit vorwiegender Beteiligung der oberen Körperregion"},"es":{"name":"Síndrome familiar de dolor episódico con afectación predominante de la parte superior del cuerpo","definition":"Es un subtipo del síndrome de dolor episódico familiar caracterizado por episodios de dolor severo y debilitante que afecta principalmente a hombros, tórax y brazos (que irradia, ocasionalmente, al abdomen y las piernas). Está desencadenado por ayuno, fatiga, bajas temperaturas o ejercicio físico, tiene una duración de 60 a 90 minutos y responde mal a la analgesia convencional. Los episodios de dolor intenso se acompañan de disnea, taquicardia, sudoración, palidez generalizada, cianosis peribucal y rigidez de la pared abdominal, seguidos de un período de agotamiento y somnolencia."},"it":{"name":"Sindrome da dolore episodico familiare con prevalente interessamento della parte superiore del corpo","definition":"La sindrome da dolore episodico familiare con prevalente interessamento della parte superiore del corpo è un sottotipo della sindrome da dolore episodico familiare; è caratterizzato da episodi di dolore grave e debilitante, che interessa per lo più le spalle, il torace e le braccia (occasionalmente si irradia verso l'addome e le gambe). Gli episodi, scatenati dal digiuno, dall'affaticamento, dalle basse temperature o dall'esercizio fisico, durano 60-90 minuti, con una scarsa risposta all'analgesia convenzionale. Gli episodi dolorosi più intensi si associano a dispnea, tachicardia, sudorazione, pallore generalizzato, cianosi periorale e rigidità della parete addominale, e sono seguiti da periodi di stanchezza estrema e sonnolenza."},"nl":{"name":"Familiaal episodisch pijnsyndroom met voornamelijk betrokkenheid van bovenlichaam","definition":"Familiaal episodisch pijnsyndroom met betrokkenheid van voornamelijk het bovenlichaam is een subtype van familiaal episodisch pijnsyndroom, en wordt gekarakteriseerd door episodes met ernstige, invaliderende pijn die vooral de schouders, thorax en armen treft (en occasioneel uitstraalt naar het abdomen en de benen), die wordt uitgelokt door vasten, vermoeidheid, koude temperaturen of fysieke inspanning, die 60-90 minuten aanhoudt, en die weinig reageert op conventionele analgetica. Episodes met intense pijn gaan gepaard met dyspneu, tachycardie, zweten, gegeneraliseerde bleekheid, peribuccale cyanose, en stijfheid van de buikwand, en worden gevolgd door een periode van uitputting en slaperigheid."},"pt":{"name":"Síndrome de dor familiar episódica com envolvimento predominante dos membros superiores"},"pl":{"name":"Zespół rodzinnego bólu epizodycznego z przewagą w górnej części ciała"},"cs":{"name":"Familiární syndrom epizodických bolestí s predominantním postižením horní poloviny těla"},"uk":{"name":"Сімейний епізодичний больовий синдром з переважним ураженням верхньої частини тіла","definition":"A subtype of familial episodic pain syndrome characterized by episodes of severe debilitating pain mainly affecting shoulders, thorax and arms (occasionally radiating to the abdomen and legs), triggered by fasting, fatigue, cold temperatures or physical exercise, which last for 60-90 min and respond poorly to conventional analgesia. Intense pain episodes are accompanied by dyspnea, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall and are followed by a period of exhaustion and somnolence."},"zh":{"name":"家族性阵发性疼痛综合征伴上半身受累为主","definition":"以上半身受累为主的家族性阵发性疼痛综合征是家族性阵发性疼痛综合征的一种亚型，其主要表现为严重衰弱的疼痛发作，主要累及肩部、胸部和手臂(偶尔辐射到腹部和腿部)，由禁食、疲劳、寒冷的温度或体育锻炼引发，持续60-90min，对常规止痛反应较差。剧烈的疼痛将伴随呼吸困难、心动过速、出汗、面色苍白、颊周发紫和腹壁僵硬，随后患者会有一段时间的疲惫和嗜睡。"},"tr":{"name":"Ağırlıklı üst vücut tutulum ile seyreden ailesel epizodik ağrı sendromu"}},"xrefs":[{"source":"OMIM","code":"615040","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M79.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"MG31.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014021","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3808667","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":391384,"name":"Familial episodic pain syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TRPA1","name":"transient receptor potential cation channel subfamily A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20547126[PMID]","hgnc":"497","ensembl":"ENSG00000104321","omim":"604775","loci":["8q21.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"24207120[PMID]_23115331[PMID]_20547126[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}