{"orpha":139573,"name":"Hereditary sensory and autonomic neuropathy with deafness and global delay","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HSAN with deafness and global delay","HSAN with hearing loss and global delay","Hereditary sensory and autonomic neuropathy with hearing loss and global delay"],"definition":"This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139573/","orphanet_url":"https://www.orpha.net/en/disease/detail/139573","names":{"fr":{"name":"Neuropathie héréditaire sensitive et autonomique avec surdité et retard de développement","synonyms":["NHSA avec surdité et retard de dévelopement"],"definition":"Ce syndrome est caractérisé par une neuropathie axonale sensorielle et autonomique, une surdité neurosensorielle et un retard de développement global et persistent."},"de":{"name":"Hereditäre sensorische und autonome Neuropathie mit Taubheit und allgemeiner Entwicklungsverzögerung","synonyms":["HSAN mit Taubheit und allgemeiner Entwicklungsverzögerung"],"definition":"Dieses Syndrom ist gekennzeichnet durch sensible und autonome axonale Neuropathie, Schallempfindungs-Schwerhörigkeit und anhaltende allgemeine Entwicklungsverzögerung."},"es":{"name":"Neuropatía sensitiva autonómica hereditaria con sordera y retraso global","synonyms":["NSAH con hipoacusia y retraso global","NSAH con sordera y retraso global","Neuropatía sensitiva autonómica hereditaria con hipoacusia y retraso global"],"definition":"Este síndrome se caracteriza por una neuropatía sensitiva axonal y autonómica, sordera neurosensitiva y retraso persistente en el desarrollo."},"it":{"name":"Neuropatia autonomica e sensoriale ereditaria - sordità - ritardo globale","synonyms":["HSAN con sordità e ritardo globale"]},"nl":{"name":"Erfelijke sensorische en autonome neuropathie met doofheid en algehele ontwikkelingsachterstand","synonyms":["Erfelijke sensorische en autonome neuropathie met gehoorverlies en algehele ontwikkelingsachterstand","HSAN met doofheid en algehele ontwikkelingsachterstand","HSAN met gehoorverlies en algehele ontwikkelingsachterstand"],"definition":"Een syndroom, gekenmerkt door een sensorische en autonome axonale neuropathie, sensorineuraal gehoorverlies, en persisterende algehele ontwikkelingsachterstand."},"pt":{"name":"Neuropatia sensitiva e autonómica hereditária com surdez e atraso global","definition":"Este síndrome é caracterizado por uma neuropatia axonal sensitiva e autonómica, surdez neurossensorial e atraso de desenvolvimento global persistente."},"pl":{"name":"Dziedziczna neuropatia czuciowa i autonomiczna z głuchotą i opóźnieniem rozwoju","synonyms":["HSAN z głuchotą i opóźnieniem rozwoju"]},"cs":{"name":"Hereditární senzorická a autonomní neuropatie s hluchotou a celkovým opožděním","synonyms":["HSAN s hluchotou a celkovým opožděním"]},"uk":{"name":"Спадкова сенсорна та вегетативна нейропатія з глухотою та глобальною затримкою розвитку","synonyms":["Спадкова сенсорна та вегетативна нейропатія з втратою слуху та затримкою психічного розвитку","HSAN з глухотою та глобальною затримкою","HSAN із втратою слуху та глобальною затримкою"],"definition":"This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay."},"zh":{"name":"遗传性感觉和自主神经病变伴耳聋和全面发育迟缓","synonyms":["遗传性感觉和自主神经病变伴有听力损失和全面发育迟缓"],"definition":"该综合征的特征是感觉和自主神经轴索性神经病，感音神经性听力丧失和持续性全面发育迟缓。"},"tr":{"name":"Sağırlık ve yaygın gecikme ile seyreden kalıtsal duyusal ve otonom nöropati","synonyms":["Sağırlık ve yaygın gecikme ile seyreden HSAN","İşitme kaybı ve yaygın gecikme ile seyreden HSAN","İşitme kaybı ve yaygın gecikme ile seyreden kalıtsal duyusal ve otonom nöropati"]}},"xrefs":[{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C21.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"118692704"},{"source":"MONDO","code":"0015354","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303566","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19920","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140477,"name":"Autosomal recessive hereditary sensory and autonomic neuropathy","classifications":[156,181]}],"children":[],"genes":[],"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":"12160974[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12160974[PMID]"}],"phenotypes":null}