{"orpha":228374,"name":"Charcot-Marie-Tooth disease type 2B5","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive Charcot-Marie-Tooth disease type 2B5","SEOAN due to NEFL deficiency","Severe early-onset axonal neuropathy due to NEFL deficiency","Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency","AR-CMT2B5"],"definition":"A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228374/","orphanet_url":"https://www.orpha.net/en/disease/detail/228374","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 2B5","synonyms":["AR-CMT2B5","Maladie de Charcot-Marie-Tooth autosomique récessive type 2B5","Neuropathie axonale sévère précoce par déficit en NEFL","Neuropathie axonale sévère précoce par déficit en chaîne légère des neurofilaments"],"definition":"Neuropathie sensitivo-motrice héréditaire axonale rare caractérisée par la survenue, dans la petite enfance, de faiblesse et d'atrophie motrices distales lentement progressives (affectant plus sévèrement les jambes et modérément les bras) avec un léger retard de développement moteur, une hypotonie et une déficience sensorielle distale de toutes les modalités sensorielles."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 2B5","synonyms":["AR-CMT2B5","Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2B5","Neuropathie, axonale, schwere früh-einsetzende, durch NEFL-Mangel","SEOAN durch NEFL-Mangel","Schwere früh-einsetzende axonale Neuropathie durch Neurofilament-Leichtketten-Mangel"]},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 2B5","synonyms":["CMT2B5-AR","Enfermedad de Charcot-Marie-Tooth autosómica recesiva tipo 2B5","Neuropatía axonal grave de inicio precoz por deficiencia de NEFL","Neuropatía axonal grave de inicio precoz por deficiencia de subunidad ligera de neurofilamentos","SEOAN por deficiencia de NEFL"],"definition":"Es una neuropatía sensitivo-motora axonal, hereditaria y poco frecuente, caracterizada por el inicio en la lactancia, de debilidad y atrofia motora distal lentamente progresiva (más grave en piernas y moderada en brazos) acompañada de leve retraso del desarrollo motor, hipotonía y deterioro sensitivo distal de todas las modalidades sensoriales."},"it":{"name":"Malattia di Charcot-Marie-Tooth tipo 2B5","synonyms":["Neuropatia assonale grave a esordio precoce da deficit della subunità leggera dei neurofilamenti"],"definition":"La malattia di Charcot-Marie-Tooth tipo 2B5 è una neuropatia motoria e sensoriale assonale ereditaria rara, che esordisce nel periodo neonatale con debolezza ed atrofia motoria distale a progressione lenta (più pronunciata nelle gambe e più moderata nelle braccia), associate a lieve ritardo dello sviluppo motorio, ipotonia e deficit sensoriali distali di tutte le funzioni sensoriali."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 2B5","synonyms":["AR-CMT2B5","Autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2B5","Ernstige axonale neuropathie met vroege aanvang door NEFL-deficiëntie","Ernstige axonale neuropathie met vroege aanvang door deficiëntie van lichte subeenheden van neurofilamenten","SEOAN door NEFL-deficiëntie"],"definition":"Een zeldzame, axonale, erfelijke motorische en sensorische neuropathie, gekarakteriseerd door infantiele aanvang van traag progressieve distale motorische zwakte en atrofie (ernstiger in benen en matig in armen) met milde motorische ontwikkelingsachterstand, hypotonie, en distale storing van alle zintuiglijke modaliteiten."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 2B5","synonyms":["Neuropatia axonal grave de início precoce por deficiência NEFL"]},"pl":{"name":"Ciężka neuropatia aksonalna o wczesnym początku z powodu niedoboru NEFL","synonyms":["Ciężka neuropatia aksonalna o wczesnym początku z powodu niedoboru podjednostki lekkich neurofilamentów"],"definition":"*Ciężka neuropatia aksonalna o wczesnym początku z powodu niedoboru NEFL (choroba Charcota, Mariego i Tootha typu 2B5) to rzadka dziedziczna aksonalna neuropatia ruchowo-czuciowa, która charakteryzuje się początkiem w niemowlęctwie i objawia się powoli postępującym zanikiem i osłabieniem mięśni dystalnych (cięższe objawy dotyczą kończyn dolnych, umiarkowane – ramion), z nieznacznie opóźnionym rozwojem ruchowym, hipotonią i dystalnym upośledzeniem wszystkich rodzajów czucia."},"cs":{"name":"Těžká axonální neuropatie s časným začátkem způsobená NEFL deficitem","synonyms":["Těžká axonální neuropatie s časným začátkem způsobená deficitem lehké podjednotky neurofilament"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 2B5","synonyms":["AR-CMT2B5","Аутосомно-рецесивна хвороба Шарко-Марі-Тута, тип 2B5","SEOAN через дефіцит NEFL","Тяжка рання аксональна нейропатія внаслідок дефіциту легкої субодиниці нейрофіламентів","Тяжка рання аксональна нейропатія внаслідок дефіциту NEFL"],"definition":"A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities."},"zh":{"name":"Charcot-Marie-Tooth病2B5型","synonyms":["神经丝轻链蛋白亚基缺陷所致重度早发性轴突性神经病"],"definition":"一种罕见的轴索遗传性运动和感觉神经病变，其特征是婴儿期开始的缓慢进展的四肢远端运动无力和萎缩（腿部较严重，手臂中度受累），伴有轻度运动发育延迟、肌张力低下和所有感觉反应通道的远端感觉损害。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 2B5","synonyms":["AR-CMT2B5","NEFL eksikliğine bağlı SEOAN","Otozomal Çekinik Charcot-Marie-Tooth hastalığı tip 2B5","NEFL eksikliğine bağlı ağır erken başlangıçlı aksonal nöropati","Hafif nörofilament alt birim eksikliğine bağlı ağır erken başlangıçlı aksonal nöropati"]}},"xrefs":[{"source":"OMIM","code":"607734","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1603286685"},{"source":"MONDO","code":"0016454","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749824","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":91024,"name":"Autosomal recessive axonal hereditary motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"NEFL","name":"neurofilament light chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20039262[PMID]","hgnc":"7739","ensembl":"ENSG00000277586","omim":"162280","loci":["8p21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"20039262[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20039262[PMID]"}],"phenotypes":null}