{"orpha":231183,"name":"Usher syndrome type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["USH3"],"definition":"A rare ciliopathy characterized by progressive hearing and visual loss in the first decades of life and, in some cases, vestibular dysfunction. Patients have normal hearing at birth. Onset of hearing loss is usually in late childhood or adolescence after development of speech. Profound deafness is mostly reported by middle age. Retinitis pigmentosa related visual loss also develops in late childhood or adolescence. Developmental motor milestones are generally normal but vestibular dysfunction may occur in adulthood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231183/","orphanet_url":"https://www.orpha.net/en/disease/detail/231183","names":{"fr":{"name":"Syndrome d'Usher type 3","synonyms":["USH3"],"definition":"Ciliopathie rare caractérisée par une perte progressive de l'audition et de la vision dans les premières décennies de la vie et, dans certains cas, par un dysfonctionnement vestibulaire. Les patients ont une audition normale à la naissance. La perte auditive survient généralement à la fin de l'enfance ou à l'adolescence, après le développement de la parole. La surdité profonde est généralement rapportée à l'âge moyen. La perte visuelle liée à la rétinite pigmentaire progresse également à la fin de l'enfance ou à l'adolescence. Les étapes du développement moteur sont généralement normales, mais un dysfonctionnement vestibulaire peut survenir à l'âge adulte."},"de":{"name":"Usher-Syndrom Typ 3","synonyms":["USH3"],"definition":"Eine seltene Ziliopathie, die in den ersten Lebensjahrzehnten zu fortschreitendem Hör- und Sehverlust und in einigen Fällen zu Gleichgewichtsstörungen führt. Bei der Geburt haben die Patienten ein normales Hörvermögen. Die Schwerhörigkeit tritt in der Regel in der späten Kindheit oder im Jugendalter nach der Sprachentwicklung auf. Eine hochgradige Schwerhörigkeit wird meist im mittleren Lebensalter diagnostiziert. Der Sehverlust durch Retinitis pigmentosa entwickelt sich ebenfalls in der späten Kindheit oder im Jugendalter. Die motorische Entwicklung verläuft im Allgemeinen normal, doch können im Erwachsenenalter vestibuläre Störungen auftreten."},"es":{"name":"Síndrome de Usher tipo 3","synonyms":["USH3"],"definition":"Es una ciliopatía poco frecuente caracterizada por pérdida progresiva de audición y visión en las primeras décadas de vida y, en algunos casos, disfunción vestibular. Los pacientes presentan una audición normal al nacer. El inicio de la pérdida auditiva suele ocurrir al final de la infancia o en la adolescencia, después del desarrollo del habla. La sordera profunda se ha descrito principalmente en la mediana edad. La pérdida visual relacionada con la retinosis pigmentaria también se desarrolla al final de la infancia o en la adolescencia. Los hitos motores del desarrollo son generalmente normales, pero se puede desarrollar disfunción vestibular en la edad adulta."},"it":{"name":"Sindrome di Usher tipo 3","synonyms":["USH3"],"definition":"Si tratta di una ciliopatia rara, caratterizzata da sordità progressiva, perdita della vista nelle prime decadi di vita e, in alcuni pazienti, disfunzione vestibolare. Alla nascita l'udito è normale e l'ipoacusia in genere si manifesta nella tarda infanzia o nell'adolescenza, dopo lo sviluppo del linguaggio. Di solito la sordità profonda si manifesta nella mezza età. La retinite pigmentosa correlata alla perdita della vista esordisce nella tarda infanzia o nell'adolescenza. Di solito lo sviluppo motorio è normale, ma nell'età adulta i pazienti possono sviluppare una disfunzione vestibolare."},"nl":{"name":"Syndroom van Usher type 3","synonyms":["USH3"],"definition":"Een zeldzame ciliopathie, gekarakteriseerd door progressief verlies van gehoor en gezichtsvermogen in het eerste levensdecennium en, in sommige gevallen, vestibulaire disfunctie. Patiënten hebben normaal gehoor bij de geboorte. Aanvang van gehoorverlies vindt meestal plaats in de late kindertijd of adolescentie, na ontwikkeling van spraak. Zeer ernstige doofheid wordt meestal gerapporteerd tegen de middelbare leeftijd. Verlies van gezichtsvermogen gerelateerd aan retinitis pigmentosa treedt ook op in de late kindertijd of adolescentie. Mijlpalen van motorische ontwikkeling zijn doorgaans normaal maar vestibulaire disfunctie kan optreden in de volwassenheid."},"pt":{"name":"Síndrome de Usher tipo 3"},"pl":{"name":"Zespół Ushera typu 3","synonyms":["USH3"]},"cs":{"name":"Usherův syndrom, typ III","synonyms":["USH3"]},"uk":{"name":"Синдром Ашера, тип 3","synonyms":["USH3"],"definition":"A rare ciliopathy characterized by progressive hearing and visual loss in the first decades of life and, in some cases, vestibular dysfunction. Patients have normal hearing at birth. Onset of hearing loss is usually in late childhood or adolescence after development of speech. Profound deafness is mostly reported by middle age. Retinitis pigmentosa related visual loss also develops in late childhood or adolescence. Developmental motor milestones are generally normal but vestibular dysfunction may occur in adulthood."},"zh":{"name":"Usher综合征3型","synonyms":["USH3"]},"tr":{"name":"Usher sendromu tip 3","synonyms":["USH3"]}},"xrefs":[{"source":"OMIM","code":"276902","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"500004","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614504","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617236","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1734357568"},{"source":"MONDO","code":"0016485","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1568248","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5442","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":886,"name":"Usher syndrome","classifications":[147,156,189,200]}],"children":[],"genes":[{"symbol":"ARSG","name":"arylsulfatase G","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29300381[PMID]","hgnc":"24102","ensembl":"ENSG00000141337","omim":"610008","loci":["17q24.2"]},{"symbol":"CEP78","name":"centrosomal protein 78","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27627988[PMID]","hgnc":"25740","ensembl":"ENSG00000148019","omim":"617110","loci":["9q21.2"]},{"symbol":"CLRN1","name":"clarin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19753315[PMID]","hgnc":"12605","ensembl":"ENSG00000163646","omim":"606397","loci":["3q25.1"]},{"symbol":"HARS1","name":"histidyl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22279524[PMID]","hgnc":"4816","ensembl":"ENSG00000170445","omim":"142810","loci":["5q31.3"]},{"symbol":"MT-TS2","name":"mitochondrially encoded tRNA-Ser (AGU/C) 2","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Not yet assessed","source":null,"hgnc":"7498","ensembl":"ENSG00000210184","omim":"590085","loci":["mitochondria"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Denmark","status":"Validated","source":"9212179[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"Specific population","status":"Validated","source":"14569126[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-09-08","source":"39304915[PMID]_30974196[PMID]","terms":[{"hpo":"HP:0000375","label":"Abnormal cochlea morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000575","label":"Scotoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001756","label":"Vestibular hypofunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001751","label":"Abnormal vestibular function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null}]}}