{"orpha":101083,"name":"Charcot-Marie-Tooth disease type 1C","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT1C"],"definition":"A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101083/","orphanet_url":"https://www.orpha.net/en/disease/detail/101083","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 1C","synonyms":["CMT1C"],"definition":"Neuropathie sensitivomotrice démyélinisante héréditaire autosomique dominante rare, qui peut se présenter soit par un phénotype de maladie de Charcot-Marie-Tooth classique avec faiblesse musculaire distale et perte de masse musculaire, troubles de la marche, paresthésie, diminution du sens vibratoire et de la sensibilité à la douleur, soit par une forme plus légère à prédominance sensitive avec paresthésie transitoire, diminution de la sensibilité et douleurs distales dans les membres supérieurs et inférieurs, sans faiblesse musculaire significative. Les pieds creux sont une caractéristique courante de la maladie, associés à d'autres symptômes à type de tremblements des mains et de diminution ou d'absence des réflexes tendineux profonds."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 1C","synonyms":["CMT1C"],"definition":"Eine seltene, autosomal-dominant vererbte, demyelinisierende motorische und sensorische Neuropathie. Sie manifestiert sich entweder als klassischer Charcot-Marie-Tooth-Phänotyp mit distaler motorischer Schwäche und Mukelatrophie, Gangschwierigkeiten, Parästhesien, verminderter Vibrations- und Schmerzempfindung oder als mildere, vorwiegend sensorische Form mit vorübergehenden Parästhesien, verminderter Empfindung und distalen Schmerzen in den oberen oder unteren Gliedmaßen ohne signifikante motorische Schwäche. Pes cavus ist ein häufiges Merkmal, und zusätzliche Symptome können Handtremor und verminderte oder fehlende tiefe Sehnenreflexe sein."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 1C","definition":"Es una neuropatía sensitivo-motora desmielinizante de herencia autosómica dominante y poco frecuente, que puede presentarse como un fenotipo clásico de la enfermedad de Charcot-Marie-Tooth con atrofia y debilidad motora distal, dificultades de la marcha, parestesias, disminución de la sensibilidad vibratoria y dolorosa, o como un fenotipo más leve, predominantemente sensitivo con parestesias transitorias, disminución de la sensibilidad y dolor distal en las extremidades superiores o inferiores, sin debilidad motora significativa. El pie cavo es un hallazgo frecuente, y otros síntomas adicionales pueden incluir temblor de manos y disminución o ausencia de reflejos osteotendinosos."},"it":{"name":"Malattia di Charcot-Marie-Tooth tipo 1C","synonyms":["CMT1C"],"definition":"Si tratta di una neuropatia motoria e sensoriale demielinizzante ereditaria rara, a trasmissione autosomica dominante, che può esordire con il quadro clinico classico della malattia di Charcot-Marie-Tooth (debolezza motoria distale e atrofia, anomalie dell'andatura, parestesie, riduzione del senso della vibrazione e del dolore), oppure con un fenotipo più lieve, per lo più sensoriale (parestesie transitorie, diminuzione della sensibilità e dolore distale negli arti superiori o inferiori, in assenza di debolezza motoria significativa). È comune il piede cavo. Altri segni clinici sono il tremore delle mani e la diminuzione o l'assenza dei riflessi tendinei profondi."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 1C","synonyms":["CMT1C"],"definition":"Een zeldzame, autosomaal dominante, erfelijke, demyeliniserende motorische en sensorische neuropathie die zich kan presenteren als een klassiek fenotype van ziekte van Charcot-Marie-Tooth met distale motorische zwakte en atrofie, gangstoornissen, paresthesieën, verminderde vibratie- en pijnzin, of als een mildere, voornamelijk sensorische vorm met transiënte paresthesieën, verminderde gewaarwording en distale pijn in de bovenste of onderste ledematen, zonder significante motorische zwakte. Holvoet (pes cavus) is een gangbaar kenmerk, en mogelijke bijkomende symptomen zijn onder meer handtremor en verminderde of afwezige diepe peesreflexen."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 1C"},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 1C","synonyms":["CMT1C"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 1C","synonyms":["CMT1C","Charcot-Marie-Toothova nemoc, typ 1C"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 1С","synonyms":["CMT1C"],"definition":"A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes."},"zh":{"name":"夏科-马里-图斯病1C型","synonyms":["CMT1C"],"definition":"Charcot-Marie-Tooth病1C型是一种罕见的常染色体显性遗传性脱髓鞘运动和感觉神经病，可表现为典型的Charcot-Marie-Tooth病表型，伴有远端运动无力和消瘦，步态困难，感觉迟钝，振动觉和痛觉降低，或较轻的一过性感觉异常，感觉减退和上肢或下肢远端疼痛，没有明显的运动无力。高弓足是一种常见的症状，其他症状可能包括手部震颤和深部肌腱反射减弱或消失。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 1C","synonyms":["CMT1C"]}},"xrefs":[{"source":"OMIM","code":"601098","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1224517226"},{"source":"MONDO","code":"0010995","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537984","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0270913","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":65753,"name":"Charcot-Marie-Tooth disease type 1","classifications":[156,181]}],"children":[],"genes":[{"symbol":"LITAF","name":"lipopolysaccharide induced TNF factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301384[PMID]","hgnc":"16841","ensembl":"ENSG00000189067","omim":"603795","loci":["16p13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"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}