{"orpha":231169,"name":"Usher syndrome type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["USH1"],"definition":"A rare ciliopathy characterized by profound congenital deafness, retinitis pigmentosa and vestibular dysfunction. Retinitis pigmentosa results in visual loss and generally manifests as night blindness, progressively constricted visual fields, and impaired visual acuity. Vestibular dysfunction a defining feature of this form, manifests as delayed motor development with affected infants taking longer to sit independently and to walk. Later on, vestibular dysfunction results in difficulty with activities requiring balance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231169/","orphanet_url":"https://www.orpha.net/en/disease/detail/231169","names":{"fr":{"name":"Syndrome d'Usher type 1","synonyms":["USH1"],"definition":"Ciliopathie rare caractérisée par une surdité congénitale sévère, une rétinite pigmentaire et un dysfonctionnement vestibulaire. La rétinite pigmentaire entraîne une perte de la vision et se manifeste généralement par une cécité nocturne, un rétrécissement progressif du champ visuel et une baisse de l'acuité visuelle. Le dysfonctionnement vestibulaire, caractéristique de cette forme, se manifeste par un retard du développement moteur, les nourrissons atteints mettent plus de temps à s'asseoir et à marcher de manière autonome. Au fil du temps, le dysfonctionnement vestibulaire entraîne des difficultés dans les activités nécessitant l'équilibre."},"de":{"name":"Usher-Syndrom Typ 1","synonyms":["USH1"],"definition":"Eine seltene Ziliopathie, die durch hochgradige angeborene Schwerhörigkeit, Retinitis pigmentosa und Störungen des Gleichgewichtsorgans gekennzeichnet ist. Retinitis pigmentosa führt zum Verlust des Sehvermögens und äußert sich in der Regel durch Nachtblindheit, fortschreitende Einschränkung des Gesichtsfeldes und verminderte Sehschärfe. Die für diese Form charakteristische vestibuläre Dysfunktion äußert sich in einer verzögerten motorischen Entwicklung, wobei die betroffenen Säuglinge länger brauchen, um selbständig zu sitzen und zu gehen. Später führt die vestibuläre Dysfunktion zu Schwierigkeiten bei Tätigkeiten, die ein Gleichgewicht erfordern."},"es":{"name":"Síndrome de Usher tipo 1","synonyms":["USH1"],"definition":"Es una ciliopatía poco frecuente caracterizada por hipoacusia congénita profunda, retinitis pigmentaria y disfunción vestibular. La retinosis pigmentaria produce pérdida de la visión y, por lo general, se manifiesta como ceguera nocturna, reducción progresiva del campo visual y alteración de la agudeza visual. La disfunción vestibular, una característica definitoria de esta forma del síndrome, se manifiesta con retraso del desarrollo motor: los lactantes afectados presentan un retraso en el logro de la sedestación independiente y de la deambulación. Posteriormente, la disfunción vestibular provoca dificultad para realizar actividades que requieren equilibrio."},"it":{"name":"Sindrome di Usher tipo 1","synonyms":["USH1"],"definition":"Si tratta di una ciliopatia rara, caratterizzata da sordità congenita profonda, retinite pigmentosa e disfunzione vestibolare. La retinite pigmentosa esita nella perdita della vista e di solito si manifesta con cecità notturna, riduzione progressiva del campo visivo e compromissione dell'acuità visiva. La disfunzione vestibolare, un segno clinico caratteristico di questa malattia, si manifesta con il ritardo dello sviluppo motorio (i bambini affetti imparano a sedersi in maniera indipendente e a camminare più tardi rispetto ai loro coetanei). Successivamente, la disfunzione vestibolare comporta difficoltà nelle attività che richiedono equilibrio."},"nl":{"name":"Syndroom van Usher type 1","synonyms":["USH1"],"definition":"Een zeldzame ciliopathie, gekarakteriseerd door zeer ernstige congenitale doofheid, retinitis pigmentosa en disfunctie van vestibulair systeem. Retinitis pigmentosa resulteert in verlies van gezichtsvermogen en manifesteert zich doorgaans als nachtblindheid, progressieve vernauwing van gezichtsveld, en verstoorde gezichtsscherpte. Vestibulaire disfunctie is een bepalend kenmerk van deze vorm, en manifesteert zich als vertraagde motorische ontwikkeling waardoor getroffen zuigelingen er langer over doen om zelfstandig te kunnen zitten en lopen. Later leidt vestibulaire disfunctie tot moeilijkheden met activiteiten waarbij evenwicht vereist is."},"pt":{"name":"Síndrome de Usher tipo 1"},"pl":{"name":"Zespół Ushera typu 1","synonyms":["USH1"]},"cs":{"name":"Usherův syndrom, typ I","synonyms":["USH1"]},"uk":{"name":"Синдром Ашера, тип 1","synonyms":["USH1"],"definition":"A rare ciliopathy characterized by profound congenital deafness, retinitis pigmentosa and vestibular dysfunction. Retinitis pigmentosa results in visual loss and generally manifests as night blindness, progressively constricted visual fields, and impaired visual acuity. Vestibular dysfunction a defining feature of this form, manifests as delayed motor development with affected infants taking longer to sit independently and to walk. Later on, vestibular dysfunction results in difficulty with activities requiring balance."},"zh":{"name":"Usher综合征1型","synonyms":["USH1"]},"tr":{"name":"Usher sendromu tip 1","synonyms":["USH1"]}},"xrefs":[{"source":"OMIM","code":"276900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"276904","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601067","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602083","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602097","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606943","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612632","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614990","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618632","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":"237039059"},{"source":"MONDO","code":"0010168","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1568247","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5435","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":"CDH23","name":"cadherin related 23","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301442[PMID]","hgnc":"13733","ensembl":"ENSG00000107736","omim":"605516","loci":["10q22.1"]},{"symbol":"MYO7A","name":"myosin VIIA","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301442[PMID]","hgnc":"7606","ensembl":"ENSG00000137474","omim":"276903","loci":["11q13.5"]},{"symbol":"PCDH15","name":"protocadherin related 15","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301442[PMID]","hgnc":"14674","ensembl":"ENSG00000150275","omim":"605514","loci":["10q21.1"]},{"symbol":"USH1C","name":"USH1 protein network component harmonin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301442[PMID]","hgnc":"12597","ensembl":"ENSG00000006611","omim":"605242","loci":["11p15.1"]},{"symbol":"USH1G","name":"USH1 protein network component sans","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301442[PMID]","hgnc":"16356","ensembl":"ENSG00000182040","omim":"607696","loci":["17q25.1"]},{"symbol":"ESPN","name":"espin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29572253[PMID]","hgnc":"13281","ensembl":"ENSG00000187017","omim":"606351","loci":["1p36.31"]},{"symbol":"USH1E","name":"Usher syndrome 1E (autosomal recessive, severe)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301442[PMID]","hgnc":"12599","ensembl":null,"omim":null,"loci":["21q21"]},{"symbol":"USH1H","name":"Usher syndrome 1H (autosomal recessive)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301442[PMID]","hgnc":"22433","ensembl":null,"omim":null,"loci":["15q22-q23"]},{"symbol":"USH1K","name":"Usher syndrome 1K (autosomal recessive)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301442[PMID]","hgnc":"43724","ensembl":null,"omim":null,"loci":["10p11.21-q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Denmark","status":"Validated","source":"9212179[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-09-11","source":"20301442[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: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:0000572","label":"Visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001751","label":"Abnormal vestibular function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007994","label":"Peripheral visual field loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null}]}}