{"orpha":363396,"name":"High myopia-sensorineural deafness syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["High myopia-sensorineural hearing loss syndrome"],"definition":"High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363396/","orphanet_url":"https://www.orpha.net/en/disease/detail/363396","names":{"fr":{"name":"Syndrome de myopie forte-surdité neurosensorielle","definition":"Une maladie génétique rare caractérisée par une forte myopie, variant classiquement de -6.0 à -11.0 dioptries, associée à une surdité neurosensorielle progressive, bilatérale, modérée à profonde, survenant avant l'acquisition du langage. Il n'y a pas d'autres manifestations systémiques, oculaires ou du tissu conjonctif."},"de":{"name":"Hochgradige Myopie-sensorineurale Schwerhörigkeit-Syndrom","definition":"Das Syndrom der starken Myopie mit sensorineuraler Taubheit ist eine seltene genetische Erkrankung, die durch eine hohe Myopie (typischerweise zwischen -6,0 und -11,0 Dioptrien) und eine mäßige bis hochgradige, bilaterale, progressive sensorineurale Schwerhörigkeit mit prälingualem Beginn gekennzeichnet ist. Betroffene Personen weisen keine anderen systemischen, okulären oder bindegewebigen Manifestationen auf."},"es":{"name":"Síndrome de miopía alta-sordera neurosensorial","synonyms":["Síndrome de miopía alta-hipoacusia neurosensorial"],"definition":"El síndrome de miopía alta - sordera neurosensorial es una enfermedad genética poco frecuente caracterizada por una miopía de alto grado, que suele oscilar entre -6,0 y -11,0 dioptrías, y una pérdida auditiva prelocutiva neurosensorial progresiva bilateral de moderada a profunda. Los individuos afectados no presentan otras manifestaciones sistémicas, oculares o del tejido conjuntivo."},"it":{"name":"Sindrome miopia elevata-sordità neurosensoriale","definition":"La sindrome che associa miopia elevata e sordità neurosensoriale è una malattia genetica rara, caratterizzata da miopia elevata (di solito compresa tra -6,0 e -11,0 diottrie) e sordità neurosensoriale bilaterale progressiva, da moderata a profonda, ad esordio prelinguale. I pazienti non presentano altri segni sistemici, né oculari, né del tessuto connettivo."},"nl":{"name":"Hoge myopie - sensorineurale doofheid-syndroom","definition":"Hoge myopie - sensorineurale doofheid-syndroom is een zeldzame genetische ziekte die gekarakteriseerd wordt door hoge myopie, doorgaans gaande van -6,0 tot -11,0 dioptrie, en matig tot ernstig, bilateraal, progressief sensorineuraal gehoorverlies met prelinguale aanvang. Getroffen individuen vertonen geen andere systemische, oculaire of bindweefsel-gerelateerde manifestaties."},"pt":{"name":"Síndrome de miopia grave-surdez neurossensorial"},"pl":{"name":"Zespół wysoka krótkowzroczność-głuchota","synonyms":["Zespół wysoka krótkowzroczność-utrata słuchu"]},"cs":{"name":"Syndrom zahrnující vysokou myopii a senzorineurální hluchotu","synonyms":["High myopia-sensorineural hearing loss syndrome"]},"uk":{"name":"Синдром сенсоневральної приглухуватості з високою міопією","synonyms":["Синдром сенсоневральної приглухуватості з високою міопією"],"definition":"High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations."},"zh":{"name":"高度近视-感音神经性耳聋综合征","synonyms":["高度近视-感音神经性听力损失综合征"],"definition":"高度近视-感音神经性耳聋综合征是一种罕见的遗传性疾病，其特征为高度近视，典型范围为-6.0至-11.0屈光度，以及中度至极重度的双侧进行性感音神经性听力损失，伴有语前发作。受累的患者不会出现其他系统性、眼部或结缔组织病变。"},"tr":{"name":"Yüksek miyopi-sensörinöral sağırlık sendromu","synonyms":["Yüksek miyopi-sensörinöral işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"221200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H90.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0009082","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304026","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12844","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":519272,"name":"Structural developmental eye defect","classifications":[147,189]},{"orpha":522536,"name":"Structural developmental eye defect of genetic origin","classifications":[156]}],"children":[],"genes":[{"symbol":"SLITRK6","name":"SLIT and NTRK like family member 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23543054[PMID]","hgnc":"23503","ensembl":"ENSG00000184564","omim":"609681","loci":["13q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"23543054[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}