{"orpha":3233,"name":"Cochleosaccular degeneration-cataract syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3233/","orphanet_url":"https://www.orpha.net/en/disease/detail/3233","names":{"fr":{"name":"Syndrome de dégénérescence cochléo-sacculaire-cataracte","definition":"Le syndrome de dégénérescence cochléo-sacculaire-cataracte est caractérisé par une surdité neuro-sensorielle due à une dégénérescence cochléo-sacculaire sévère, et par une cataracte. A ce jour, il a été décrit dans deux familles. Le mode de transmission est autosomique dominant."},"de":{"name":"Kochleosakkuläre Degeneration-Katarakt-Syndrom","synonyms":["Syndrom der cochleo-sacculären Degeneration mit Katarakt"],"definition":"Dieses Syndrom ist gekennzeichnet durch progrediente Schallempfindungs- Schwerhörigkeit (verursacht durch schwere cochleo-sacculäre Degeneration) und Katarakt."},"es":{"name":"Síndrome de degeneración cocleosacular-catarata","definition":"Es un síndrome caracterizado por hipoacusia neurosensorial progresiva debida a una degeneración cocleosacular grave y por cataratas. Hasta la fecha, se ha descrito en dos familias. La transmisión es autosómica dominante."},"it":{"name":"Degenerazione cocleosacculare - cataratta"},"nl":{"name":"Cochleosacculaire degeneratie - cataract-syndroom","definition":"Een syndroom, gekenmerkt door progressief sensorineuraal gehoorverlies als gevolg van ernstige cochleosacculaire degeneratie, en cataract. Tot op heden werd cochleosacculaire degeneratie - cataract-syndroom gerapporteerd bij twee families. Overerving gebeurt autosomaal dominant."},"pt":{"name":"Síndrome de degenerescência cócleo-sacular-catarata"},"pl":{"name":"Zwyrodnienie ślimaka i woreczka - zaćma"},"cs":{"name":"Syndrom zahrnující kochleosakulární degeneraci a kataraktu"},"uk":{"name":"Синдром кохлеосаккуларної дегенерації-катаракти","definition":"Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant."},"zh":{"name":"蜗球囊变性-白内障综合征"},"tr":{"name":"Kokleosaküler dejenerasyon-katarakt sendromu"}},"xrefs":[{"source":"OMIM","code":"120040","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H83.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1613703869"},{"source":"MONDO","code":"0007346","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536432","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861512","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9418","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7121157[PMID]_1623624[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7121157[PMID]_1623624[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005102","label":"Cochlear degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000408","label":"Progressive sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}