{"orpha":231178,"name":"Usher syndrome type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["USH2"],"definition":"A rare ciliopathy characterized by congenital moderate-to-severe deafness, retinitis pigmentosa developing in the first or second decade, and normal vestibular function. Congenital bilateral sensorineural hearing loss is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Additional manifestations include night blindness, constricted visual field (tunnel vision), and later on decreased visual acuity sometimes ending with bare light perception.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231178/","orphanet_url":"https://www.orpha.net/en/disease/detail/231178","names":{"fr":{"name":"Syndrome d'Usher type 2","synonyms":["USH2"],"definition":"Ciliopathie rare caractérisée par une surdité congénitale modérée à sévère, une rétinite pigmentaire se développant dans la première ou la deuxième décennie de vie et une fonction vestibulaire normale. La surdité de perception bilatérale congénitale est légère à modérée dans les basses fréquences et sévère à profonde dans les hautes fréquences. Les autres signes cliniques observés sont la cécité nocturne, le rétrécissement du champ visuel (vision en tunnel) et, au fil du temps, une diminution de l'acuité visuelle qui évolue parfois vers une perception très faible de la lumière."},"de":{"name":"Usher-Syndrom Typ 2","synonyms":["USH2"],"definition":"Eine seltene Ziliopathie, die durch eine kongenitale mittelgradige bis hochgradige Schwerhörigkeit, eine Retinitis pigmentosa, die sich im ersten oder zweiten Lebensjahrzehnt entwickelt, und eine normale vestibuläre Funktion gekennzeichnet ist. Die angeborene beidseitige Schallempfindungsschwerhörigkeit ist im Tieftonbereich leicht bis mittelgradig und im Hochtonbereich schwer bis hochgradig. Weitere Manifestationen sind Nachtblindheit, Gesichtsfeldeinschränkung (Tunnelblick) und später eine Abnahme der Sehschärfe bis hin zur Lichtwahrnehmung."},"es":{"name":"Síndrome de Usher tipo 2","synonyms":["USH2"],"definition":"Es una ciliopatía poco frecuente caracterizada por hipoacusia congénita de moderada a severa, retinosis pigmentaria que se desarrolla en la primera o segunda década de vida y función vestibular normal. La hipoacusia neurosensorial congénita bilateral es de leve a moderada en las frecuencias bajas y de severa a profunda en las frecuencias más altas. Otras manifestaciones adicionales incluyen ceguera nocturna, reducción del campo visual (visión en túnel) y, posteriormente, disminución de la agudeza visual que en ocasiones progresa hasta la mera percepción de la luz."},"it":{"name":"Sindrome di Usher tipo 2","synonyms":["USH2"],"definition":"Si tratta di una ciliopatia rara, caratterizzata da sordità congenita moderata-grave, retinite pigmentosa ad esordio nella prima o nella seconda decade di vita, e da una funzione vestibolare normale. La sordità neurosensoriale congenita bilaterale è lieve o moderata alle basse frequenze, e grave o profonda alle frequenze più alte. Altri segni clinici sono la cecità notturna, la riduzione del campo visivo (visione a tunnel) e, successivamente, la riduzione dell'acuità visiva che talvolta esita nella sola percezione della luce."},"nl":{"name":"Syndroom van Usher type 2","synonyms":["USH2"],"definition":"Een zeldzame ciliopathie, gekarakteriseerd door congenitale, matige tot ernstige doofheid, retinitis pigmentosa die zich ontwikkelt in het eerste of tweede levensdecennium, en normale vestibulaire functie. Congenitaal bilateraal sensorineuraal gehoorverlies is mild tot matig voor lage frequenties en ernstig tot zeer ernstig voor hogere frequenties. Bijkomende manifestaties zijn onder meer nachtblindheid, vernauwd gezichtsveld (tunnelvisie), en later verminderde gezichtsscherpte die soms eindigt met zwakke lichtperceptie."},"pt":{"name":"Síndrome de Usher tipo 2"},"pl":{"name":"Zespół Ushera typu 2","synonyms":["USH2"]},"cs":{"name":"Usherův syndrom, typ II","synonyms":["USH2"]},"uk":{"name":"Синдром Ашера, тип 2","synonyms":["USH2"],"definition":"A rare ciliopathy characterized by congenital moderate-to-severe deafness, retinitis pigmentosa developing in the first or second decade, and normal vestibular function. Congenital bilateral sensorineural hearing loss is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Additional manifestations include night blindness, constricted visual field (tunnel vision), and later on decreased visual acuity sometimes ending with bare light perception."},"zh":{"name":"Usher综合征2型","synonyms":["USH2"]},"tr":{"name":"Usher sendromu tip 2","synonyms":["USH2"]}},"xrefs":[{"source":"OMIM","code":"276901","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605472","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611383","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":"33632175"},{"source":"MONDO","code":"0016484","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0339534","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5440","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":"ADGRV1","name":"adhesion G protein-coupled receptor V1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301515[PMID]","hgnc":"17416","ensembl":"ENSG00000164199","omim":"602851","loci":["5q14.3"]},{"symbol":"MYO7A","name":"myosin VIIA","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24831256[PMID]","hgnc":"7606","ensembl":"ENSG00000137474","omim":"276903","loci":["11q13.5"]},{"symbol":"USH2A","name":"usherin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301515[PMID]","hgnc":"12601","ensembl":"ENSG00000042781","omim":"608400","loci":["1q41"]},{"symbol":"WHRN","name":"whirlin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301515[PMID]","hgnc":"16361","ensembl":"ENSG00000095397","omim":"607928","loci":["9q32"]},{"symbol":"PDZD7","name":"PDZ domain containing 7","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"20440071[PMID]","hgnc":"26257","ensembl":"ENSG00000186862","omim":"612971","loci":["10q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.2,"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":"2025-09-08","source":"20301515[PMID]_37334034[PMID]_39740053[PMID]","terms":[{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000359","label":"Abnormality of the inner ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","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:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001133","label":"Constriction of peripheral visual field","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","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:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032036","label":"Reduced contrast sensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001751","label":"Abnormal vestibular function","frequency":"Very rare (<4-1%)","criteria":null}]}}