{"orpha":99014,"name":"X-linked Charcot-Marie-Tooth disease type 5","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT5X","CMTX5"],"definition":"A rare genetic peripheral sensorimotor neuropathy characterized by infancy-to childhood onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99014/","orphanet_url":"https://www.orpha.net/en/disease/detail/99014","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth liée à l'X type 5","synonyms":["CMT5X","CMTX5"],"definition":"Neuropathie sensitivo-motrice périphérique génétique rare caractérisée par l'apparition, entre la petite enfance et l'enfance, d'une faiblesse et d'une atrophie musculaires distales progressives (apparaissant d'abord et de façon plus marquée dans les membres inférieurs que dans les membres supérieurs) qui se manifestent généralement par un pied tombant et un trouble de la marche, une surdité neurosensorielle pré-linguale, profonde et bilatérale, ainsi que par une neuropathie optique progressive."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 5","synonyms":["CMT5X"],"definition":"Eine seltene genetisch bedingte periphere sensomotorische Neuropathie, die durch eine progressive distale Muskelschwäche und -atrophie (die zuerst an den unteren Extremitäten auftritt und dort ausgeprägter ist als an den oberen Extremitäten) gekennzeichnet ist, die im Säuglings- und Kindesalter beginnt und sich in der Regel durch eine Fußsenkung und Gangstörung, eine hochgradige beidseitige prälinguale Schallempfindungsschwerhörigkeit und eine progressive Optikusneuropathie äußert."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X tipo 5","synonyms":["CMT5X","CMTX5"],"definition":"Es una neuropatía sensitivomotora periférica, poco frecuente y de base genética, caracterizada por el inicio, entre el periodo de lactancia y la infancia, de debilidad y atrofia muscular distal progresiva (que debuta y está más acentuada en las extremidades inferiores que en las superiores). Por lo general, se manifiesta con pie caído y alteración de la marcha, hipoacusia neurosensorial prelocutiva bilateral profunda y neuropatía óptica progresiva."},"it":{"name":"Malattia di Charcot-Marie-Tooth legata all'X, tipo 5","synonyms":["CMT5X","CMTX5"],"definition":"La malattia di Charcot-Marie-Tooth legata all'X tipo 5 è una neuropatia sensitivo-motoria periferica rara e genetica, ad esordio neonatale o infantile; la trasmissione è recessiva legata all'X. La malattia è caratterizzata da: 1) debolezza e atrofia progressive dei muscoli distali (l'atrofia compare per prima ed è più marcata nelle estremità inferiori rispetto a quelle superiori) che di solito si associano ad un piede cadente con alterazioni della deambulazione; 2) sordità neurosensoriale bilaterale, profonda prelinguale; 3) neuropatia ottica progressiva. Le femmine sono asintomatiche e non presentano il quadro clinico della malattia."},"nl":{"name":"X-gebonden ziekte van Charcot-Marie-Tooth type 5","synonyms":["CMT5X","CMTX5"],"definition":"Een zeldzame genetische perifere sensomotorische neuropathie, gekenmerkt door aanvang in de zuigelingen- tot kindertijd van progressieve distale spierzwakte en -atrofie (die eerder verschijnen en prominenter zijn in de onderste dan in de bovenste ledematen) die zich meestal manifesteren met klapvoet en gangstoornis, bilateraal en diepgaand prelinguaal sensorineuraal gehoorverlies, en progressieve opticusneuropathie."},"pt":{"name":"Doença de Charcot-Marie-Tooth ligada ao X tipo 5","synonyms":["CMT5X","CMTX5"],"definition":"Neuropatia sensório-motora periférica genética rara, caracterizada pelo início da fraqueza muscular distal progressiva e atrofia na infância (que aparece primeiro e é mais proeminente nas extremidades inferiores do que nas superiores), e que geralmente se manifesta com queda do pé e distúrbio da marcha, perda auditiva neurossensorial pré-lingual profunda e bilateral e neuropatia óptica progressiva."},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 5 sprzężona z chromosomem X","synonyms":["CMT5X","CMTX5"],"definition":"Rzadka, genetycznie uwarunkowana obwodowa neuropatia czuciowo-ruchowa, która charakteryzuje się postępującym osłabieniem i zanikiem mięśni dystalnych o początku w wieku niemowlęcym lub dziecięcym (bardziej nasilonym w kończynach dolnych niż górnych), co zwykle prowadzi do opadania stopy i zaburzeń chodu z towarzyszącym obustronnym, głębokim, prelingwalnym niedosłuchem czuciowo-nerwowym i postępującą neuropatią wzrokową."},"cs":{"name":"X-vázaná Charcotova-Marieova-Toothova nemoc, typ 5","synonyms":["CMT5X","CMTX5","X-vázaná Charcot-Marie-Toothova nemoc, typ 5"]},"uk":{"name":"Х-зчеплена хвороба Шарко-Марі-Тута, тип 5","synonyms":["CMT5X","CMTX5"],"definition":"A rare genetic peripheral sensorimotor neuropathy characterized by infancy-to childhood onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy."},"zh":{"name":"X-连锁腓骨肌萎缩症5型","synonyms":["CMTX5"],"definition":"X-连锁Charcot-Marie-Tooth病5型是一种罕见的遗传性外周感觉运动性神经病，其特征是X连锁隐性遗传模式，从婴儿期到儿童期出现：1)进行性远端肌肉无力和萎缩(首先出现在下肢，比上肢更明显)，通常表现为足下垂和步态障碍；2)双侧、严重的舌前感觉神经性听力损失和；3)进行性视神经病变。女性通常没有症状。"},"tr":{"name":"X'e bağlı Charcot-Marie-Tooth hastalığı tip 5","synonyms":["CMT5X","CMTX5"]}},"xrefs":[{"source":"OMIM","code":"311070","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2045648964"},{"source":"MONDO","code":"0010699","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839566","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"114","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79191,"name":"Disorder of purine metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]},{"orpha":64747,"name":"X-linked Charcot-Marie-Tooth disease","classifications":[147,156,181,200]}],"children":[],"genes":[{"symbol":"PRPS1","name":"phosphoribosyl pyrophosphate synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301731[PMID]","hgnc":"9462","ensembl":"ENSG00000147224","omim":"311850","loci":["Xq22.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17701900[PMID]_20301731[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"17701900[PMID]_20301731[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"20301731[PMID]","terms":[{"hpo":"HP:0040129","label":"Abnormal nerve conduction velocity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002385","label":"Paraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}