{"orpha":1490,"name":"Corneal dystrophy-perceptive deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CDPD","Corneal dystrophy with progressive deafness","Corneal dystrophy with progressive hearing loss","Corneal dystrophy-perceptive hearing loss syndrome","Harboyan syndrome"],"definition":"Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1490/","orphanet_url":"https://www.orpha.net/en/disease/detail/1490","names":{"fr":{"name":"Syndrome de dystrophie cornéenne-surdité de perception","synonyms":["CDPD","Dystrophie cornéenne avec surdité progressive","Syndrome de Harboyan"],"definition":"La dystrophie cornéenne avec surdité de perception (DCSP) ou syndrome de Harboyan, est une affection cornéenne dégénérative caractérisée par l'association d'une dystrophie endothéliale congénitale héréditaire (CHED) et d'une perte de l'audition neurosensorielle postlinguale progressive."},"de":{"name":"Hornhautdystrophie-Schallempfindungsschwerhörigkeit-Syndrom","synonyms":["CDPD","Harboyan-Syndrom","Syndrom der Korneadystrophie mit Schallempfindungsschwerhörigkeit"],"definition":"Das Korneadystrophie-Schallempfindungsschwerhörigkeit (<i>Corneal dystrophy-perceptive deafness</i>, CDPD)- oder Harboyan-Syndrom ist eine degenerative Erkrankung der Hornhaut des Auges mit angeborener erblicher Endothel-Dystrophie (CHED) und progredienter, postlingualer Schallempfindungs-Schwerhörigkeit."},"es":{"name":"Síndrome de distrofia de córnea-sordera de percepción","synonyms":["Distrofia corneal con sordera progresiva","Síndrome de distrofia corneal-hipoacusia de percepción","Distrofia corneal con hipoacusia progresiva"],"definition":"La distrofia de córnea con sordera de percepción (DCSP), o síndrome de Harboyan, es una afección córnea degenerativa caracterizada por la asociación de una distrofia endotelial congénita hereditaria (CHED, ver término) y una pérdida de audición neurosensorial postlingual progresiva."},"it":{"name":"Distrofia corneale - sordità percettiva","synonyms":["CDPD","Distrofia corneale con sordità progressiva"]},"nl":{"name":"Corneadystrofie - perceptieve doofheid-syndroom","synonyms":["CDPD","Corneadystrofie - perceptief gehoorverlies-syndroom","Corneadystrofie met progressief gehoorverlies","Corneadystrofie met progressieve doofheid","Syndroom van Harboyan"],"definition":"Corneadystrofie - perceptieve doofheid (CDPD)-syndroom of syndroom van Harboyan is a degeneratieve aandoening van hoornvlies, gekenmerkt door de associatie van congenitale hereditaire endotheliale dystrofie (CHED) met progressief, postlinguaal sensorineuraal gehoorverlies."},"pt":{"name":"Síndrome de distrofia da córnea-surdez percetiva"},"pl":{"name":"Dystrofia rogówki - głuchota odbiorcza","synonyms":["CDPD","Dystrofia rogówki z głuchotą postępującą","Zespół Harboyana"]},"cs":{"name":"Syndrom zahrnující dystrofii rohovky a percepční hluchotu","synonyms":["CDPD","Dystrofie rohovky s progresivní hluchotou","Harboyanův syndrom"]},"uk":{"name":"Синдром дистрофії рогівки-перцептивної глухоти","synonyms":["CDPD","Дистрофія рогівки з прогресуючою глухотою","Дистрофія рогівки з прогресуючою втратою слуху","Синдром дистрофії рогівки - перцептивної приглухуватості","Синдром Гарбояна"],"definition":"Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss."},"zh":{"name":"角膜营养不良-感音性聋综合征","synonyms":["角膜营养不良-感音性听力丧失综合征"]},"tr":{"name":"Kornea distrofisi-algılayıcı sağırlık sendromu","synonyms":["CDPD","Harboyan sendromu","İlerleyici sağırlık ile seyreden kornea distrofisi","İlerleyici işitme kaybı ile seyreden kornea distrofisi","Korneal distrofi-algısal işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"217400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H18.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1379977650"},{"source":"MONDO","code":"0009015","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535473","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857572","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1529","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":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"SLC4A11","name":"solute carrier family 4 member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17220209[PMID]_18922146[PMID]","hgnc":"16438","ensembl":"ENSG00000088836","omim":"610206","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18922146[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"18922146[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null}]}}