{"orpha":139583,"name":"X-linked hereditary sensory and autonomic neuropathy with deafness","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked HSAN with deafness","X-linked HSAN with hearing loss","X-linked auditory neuropathy with peripheral sensory neuropathy type 1","X-linked hereditary sensory and autonomic neuropathy with hearing loss"],"definition":"A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139583/","orphanet_url":"https://www.orpha.net/en/disease/detail/139583","names":{"fr":{"name":"Neuropathie héréditaire sensitive et autonomique liée à l'X avec surdité","synonyms":["NHSA avec surdité liée à l'X","Neuropathie auditive avec neuropathie sensitive périphérique de type 1 liée à l'X"],"definition":"Ce syndrome est caractérisé par l'association d'une neuropathie axonale sensorielle et autonomique avec une surdité."},"de":{"name":"Hereditäre sensorische und autonome Neuropathie mit Taubheit, X-chromosomal","synonyms":["Auditorische Neuropathie mit peripherer sensibler Neuropathie, X-chromosomal, Typ 1","HSAN mit Schwerhörigkeit, X-chromosomal"],"definition":"Dieses Syndrom ist gekennzeichnet durch die Assoziation einer axonalen sensiblen und autonomen Neuropathie mit Schwerhörigkeit."},"es":{"name":"Neuropatía sensitiva autonómica hereditaria ligada al cromosoma X con sordera","synonyms":["NSAH con hipoacusia ligada al cromosoma X","NSAH con sordera ligada al cromosoma X","Neuropatía auditiva con neuropatía periférica sensitiva ligada al cromosoma X tipo 1","Neuropatía sensitiva autonómica hereditaria ligada al cromosoma X con hipoacusia"],"definition":"Este síndrome se caracteriza por la asociación de una neuropatía sensitiva axonal y autonómica con pérdida auditiva."},"it":{"name":"Neuropatia autonomica e sensoriale ereditaria legata all'X con sordità","synonyms":["HSAN con sordità legata all'X","Neuropatia acustica con neuropatia sensitiva periferica legata all'X, tipo 1"]},"nl":{"name":"X-gebonden hereditaire sensorische en autonome neuropathie met doofheid","synonyms":["X-gebonden HSAN met doofheid","X-gebonden HSAN met gehoorverlies","X-gebonden auditieve neuropathie met perifere sensorische neuropathie type 1","X-gebonden hereditaire sensorische en autonome neuropathie met gehoorverlies"],"definition":"Een syndroom, gekenmerkt door de associatie van een axonale sensorische en autonome neuropathie met gehoorverlies."},"pt":{"name":"Neuropatia sensitiva e autonómica hereditária ligada ao X com surdez","definition":"Este síndrome é caracterizado pela associação de uma neuropatia axonal sensitiva e autonómica com surdez."},"pl":{"name":"Dziedziczna neuropatia czuciowa i autonomiczna sprzężona z chromosomem X z głuchotą","synonyms":["HSAN sprzężona z chromosomem X z głuchotą","Neuropatia słuchowa sprzężona z chromosomem X z obwodową neuropatią czuciową typu 1"]},"cs":{"name":"X-vázaná hereditární senzorická a autonomní neuropatie s hluchotou","synonyms":["X-vázaná HSAN s hluchotou","X-vázaná neuropatie sluchového nervu s periferní senzorickou neuropatií, typ 1"]},"uk":{"name":"Х-зчеплена спадкова сенсорна та автономна нейропатія з глухотою","synonyms":["Х-зчеплена слухова нейропатія з периферичною сенсорною нейропатією типу 1","Х-зчеплена спадкова сенсорна та вегетативна нейропатія з втратою слуху","Х-зчеплений HSAN з глухотою","Х-звязаний HSAN зі зниженим слухом"],"definition":"A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss."},"zh":{"name":"X连锁遗传性感觉和自主神经病变伴耳聋","synonyms":["X连锁遗传性感觉和自主神经病变伴耳聋"],"definition":"该综合征的特征与轴索性感觉和自主神经病伴听力损失相关。"},"tr":{"name":"Sağırlık ile seyreden X'e bağlı kalıtsal duyusal ve otonomik nöropati","synonyms":["Sağırlık ile seyreden X bağlantılı HSAN","İşitme kaybı ile seyreden X bağlantılı HSAN","Periferik duyusal nöropati tip 1 ile seyreden X'e bağlı işitsel nöropati","İşitme kaybı ile seyreden X'e bağlı kalıtsal duyusal ve otonomik nöropati"]}},"xrefs":[{"source":"OMIM","code":"300614","qualifier":"E","icd_relation":null,"validated":true},{"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":"1671973438"},{"source":"MONDO","code":"0010378","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304400","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140471,"name":"Hereditary sensory and autonomic neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AIFM1","name":"apoptosis inducing factor mitochondria associated 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25986071[PMID]","hgnc":"8768","ensembl":"ENSG00000156709","omim":"300169","loci":["Xq26.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"25986071[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25986071[PMID]"}],"phenotypes":null}