{"orpha":1368,"name":"Cataract-ataxia-deafness syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Cataract-ataxia-hearing loss syndrome"],"definition":"A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1368/","orphanet_url":"https://www.orpha.net/en/disease/detail/1368","names":{"fr":{"name":"Syndrome de cataracte-ataxie-surdité","definition":"Maladie génétique rare caractérisée par une légère déficience intellectuelle, une cataracte congénitale, une perte auditive neurosensorielle progressive, une ataxie, une neuropathie périphérique et une petite taille. Aucun cas n'a été décrit dans la littérature depuis 1991."},"de":{"name":"Katarakt-Ataxie-Schwerhörigkeit-Syndrom","definition":"Ein seltenes genetisches Syndrom, das durch leichte intellektuelle Beeinträchtigung, kongenitale Katarakt, progrediente sensorineurale Schwerhörigkeit, Ataxie, periphere Neuropathie und Kleinwuchs gekennzeichnet ist. Seit 1991 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de catarata-ataxia-sordera","synonyms":["Síndrome de catarata-ataxia-hipoacusia"],"definition":"Es una enfermedad genética poco frecuente que se caracteriza por un déficit intelectual leve, catarata congénita, pérdida auditiva neurosensorial progresiva, ataxia, neuropatía periférica y talla baja. No ha habido más descripciones en la literatura desde 1991."},"it":{"name":"Sindrome cataratta-atassia-sordità","definition":"Si tratta di una malattia genetica rara, caratterizzata da deficit intellettivo lieve, cataratta congenita, sordità neurosensoriale progressiva, atassia, neuropatia periferica e bassa statura. Non sono stati descritti nuovi casi dopo il 1991."},"nl":{"name":"Cataract - ataxie - doofheid-syndroom","synonyms":["Cataract - ataxie - gehoorverlies-syndroom"],"definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door milde intellectuele achterstand, congenitaal cataract, progressief sensorineuraal gehoorverlies, ataxie, perifere neuropathie, en kleine gestalte. Sinds 1991 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de catarata-ataxia-surdez"},"pl":{"name":"Zaćma - ataksja - głuchota","synonyms":["Cataract-ataxia-hearing loss syndrome"]},"cs":{"name":"Syndrom zahrnující kataraktu, ataxii a hluchotu","synonyms":["Cataract-ataxia-hearing loss syndrome"]},"uk":{"name":"Синдром катаракти-атаксії-глухоти","synonyms":["Синдром катаракти-атаксії-глухоти"],"definition":"A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991."},"zh":{"name":"白内障-共济失调-耳聋综合征","synonyms":["白内障-共济失调-听力丧失综合征"]},"tr":{"name":"Katarakt-ataksi-sağırlık sendromu","synonyms":["Katarakt-ataksi-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"212710","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"388815795"},{"source":"MONDO","code":"0008928","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538283","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796123","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1141","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]},{"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":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1661780[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1661780[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008615","label":"Adult onset sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null}]}}