{"orpha":391384,"name":"Familial episodic pain syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FEPS"],"definition":"A rare genetic peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391384/","orphanet_url":"https://www.orpha.net/en/disease/detail/391384","names":{"fr":{"name":"Syndrome douloureux épisodique familial","synonyms":["FEPS"],"definition":"Neuropathie périphérique génétique rare caractérisée par des épisodes récurrents et stéréotypés de douleurs aiguës, affectant généralement soit le haut du corps soit les membres inférieurs et survenant chez plusieurs membres de la famille. Les épisodes sont déclenchés ou exacerbés par la fatigue, l'exposition au froid, le jeûne, les changements de température et/ou le stress physique ou l'effort, et leur fréquence peut ou non diminuer avec l'âge. Une sudation et d'autres manifestations, telles que tachycardie, difficultés respiratoires et pâleur généralisée, peuvent être associées."},"de":{"name":"Familiäres episodisches Schmerzsyndrom","synonyms":["FEPS"]},"es":{"name":"Síndrome de dolor episódico familiar","synonyms":["FEPS"],"definition":"El síndrome de dolor episódico familiar, es un trastorno de neuropatía periférica, genético y poco frecuente, caracterizado por dolor intenso episódico, recurrente y estereotipado, que se presenta predominantemente bien en la parte superior del cuerpo o en las extremidades inferiores, en varios miembros de una familia. El dolor se desencadena o exacerba por fatiga, exposición al frío, ayuno, cambios climáticos y/o estrés o esfuerzos físicos y puede o no disminuir con la edad. Pueden estar asociadas sudoración y otras manifestaciones tales como taquicardia, dificultades respiratorias y palidez generalizada."},"it":{"name":"Sindrome del dolore episodico familiare","synonyms":["FEPS"],"definition":"La sindrome del dolore episodico familiare è una neuropatia periferica genetica rara, caratterizzata da episodi ricorrenti e stereotipati di dolore intenso, che colpiscono la parte superiore del corpo oppure gli arti inferiori, in più membri della stessa famiglia. Gli episodi sono scatenati o esacerbati dall'affaticamento, dall'esposizione al freddo, dal digiuno, dai cambiamenti climatici e/o dallo stress o dall'esercizio fisico, e talvolta diminuiscono con l'età. Può associarsi a sudorazione e ad altri sintomi, compresa la tachicardia, le difficoltà respiratorie e il pallore generalizzato."},"nl":{"name":"Familiaal episodisch pijnsyndroom","synonyms":["FEPS"],"definition":"Familiaal episodisch pijnsyndroom is een zeldzame, genetische, perifere neuropathie gekarakteriseerd door recurrente, stereotiepe, episodische intense pijn die voornamelijk voorkomt in ofwel het bovenlichaam ofwel de onderste ledematen bij verschillende leen van een familie, die wordt uitgelokt of verergerd door vermoeidheid, blootstelling aan koude, vasten, weersveranderingen en/of fysieke stress of inspanning, en die al dan niet verminderd met het ouder worden. Zweten en andere manifestaties, zoals tachycardie, ademhalingsproblemen en gegeneraliseerde bleekheid, kunnen geassocieerd zijn."},"pt":{"name":"Síndrome de dor familiar episódica"},"pl":{"name":"Zespół rodzinnego bólu epizodycznego","synonyms":["FEPS"],"definition":"*Zespół rodzinnego bólu epizodycznego to rzadka, genetycznie uwarunkowana neuropatia obwodowa, która charakteryzuje się nawracającym, stereotypowym, epizodycznym intensywnym bólem, występującym głównie w górnej części ciała lub kończynach dolnych u kilku członków rodziny, który jest wyzwalany lub ulega nasileniu przy zmęczeniu, narażeniu na zimno, głodzeniu, zmianach pogody i/lub fizycznym stresie lub wysiłku, przy czym objaw ten może, ale nie musi, ulegać złagodzeniu wraz z wiekiem. Towarzyszyć mogą: pocenie się i inne objawy, takie jak tachykardia, trudności w oddychaniu i uogólniona bladość."},"cs":{"name":"Familiární syndrom epizodických bolestí","synonyms":["FEPS"]},"uk":{"name":"Сімейний епізодичний больовий синдром","synonyms":["FEPS"],"definition":"A rare genetic peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated."},"zh":{"name":"家族性阵发性疼痛综合征","synonyms":["FEPS"],"definition":"家族性发作性疼痛综合征是一种罕见的遗传性周围神经病，其特征是反复发作的、定型的、发作性的剧烈疼痛，主要发生在一个家庭的几个成员的上肢或下肢，可由疲劳、寒冷暴露、禁食、天气变化和/或身体压力或用力引起或加剧，并可能会/不会随着年龄的增长而减轻。出汗和其他表现，如心动过速、呼吸困难和全身苍白，也可能与此病有关。"},"tr":{"name":"Ailesel epizodik ağrı sendromu","synonyms":["FEPS"]}},"xrefs":[{"source":"OMIM","code":"615040","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615552","qualifier":"BTNT","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":"0018319","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190598","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12684","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98497,"name":"Genetic peripheral neuropathy","classifications":[156,181]}],"children":[{"orpha":391392,"name":"Familial episodic pain syndrome with predominantly lower limb involvement","type":"Clinical subtype"},{"orpha":391389,"name":"Familial episodic pain syndrome with predominantly upper body involvement","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"SCN11A","name":"sodium voltage-gated channel alpha subunit 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24207120[PMID]","hgnc":"10583","ensembl":"ENSG00000168356","omim":"604385","loci":["3p22.2"],"via":{"orpha":391392,"name":"Familial episodic pain syndrome with predominantly lower limb involvement"}},{"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"],"via":{"orpha":391389,"name":"Familial episodic pain syndrome with predominantly upper body involvement"}}],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}