{"orpha":886,"name":"Usher syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Retinitis pigmentosa-deafness syndrome","Retinitis pigmentosa-hearing loss syndrome","USH"],"definition":"A rare ciliopathy characterized by congenital or childhood onset sensorineural hearing loss (HL) and retinitis pigmentosa (RP) that occurs in a second step with a night blindness and a progressive vision loss and, in some cases, vestibular dysfunction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-886/","orphanet_url":"https://www.orpha.net/en/disease/detail/886","names":{"fr":{"name":"Syndrome d'Usher","synonyms":["Syndrome de rétinite pigmentaire-surdité","USH"],"definition":"Ciliopathie rare caractérisée par une surdité (HL) neurosensorielle bilatérale congénitale ou infantile et une rétinite pigmentaire (RP) d'apparition secondaire - entraînant une héméralopie puis une perte progressive de la vision, et, dans certains cas, des troubles de la fonction vestibulaire."},"de":{"name":"Usher-Syndrom","synonyms":["Retinitis pigmentosa - Taubheit","USH"],"definition":"Eine seltene Ziliopathie, die durch eine angeborene oder im Kindesalter auftretende Schallempfindungsschwerhörigkeit (SES) und Retinitis pigmentosa (RP) gekennzeichnet ist, die später zu Nachtblindheit und fortschreitendem Sehverlust und in einigen Fällen zu einer vestibulären Dysfunktion führt."},"es":{"name":"Síndrome de Usher","synonyms":["Síndrome de retinosis pigmentaria-hipoacusia","Síndrome de retinosis pigmentaria-sordera","USH"],"definition":"Es una ciliopatía poco frecuente caracterizada por una hipoacusia neurosensorial congénita o de inicio en la infancia y retinosis pigmentaria (RP) que se presenta en una segunda fase con ceguera nocturna y pérdida de visión progresiva y, en algunos casos, disfunción vestibular."},"it":{"name":"Sindrome di Usher","synonyms":["Retinite pigmentosa - sordità","USH"],"definition":"La sindrome di Usher (USH) è una ciliopatia rara caratterizzata da sordità neurosensoriale congenita o ad esordio infantile associata alla retinite pigmentosa (RP) che si manifesta successivamente con cecità notturna e perdita progressiva della vista e, in alcuni pazienti, con disfunzione vestibolare."},"nl":{"name":"Syndroom van Usher","synonyms":["Retinitis pigmentosa - doofheid-syndroom","Retinitis pigmentosa - gehoorverlies-syndroom","USH"],"definition":"Een zeldzame ciliopathie, gekarakteriseerd door congenitaal of in de kindertijd aanvangend sensorineuraal gehoorverlies en retinitis pigmentosa (RP) dat in een tweede fase voorkomt met nachtblindheid en progressief verlies van gezichtsvermogen, en in sommige gevallen met disfunctie van vestibulum."},"pt":{"name":"Síndrome Usher","synonyms":["Síndrome de retinite pigmentosa-surdez"],"definition":"O síndrome de Usher (US) é caracterizado pela associação de surdez neurossensorial (normalmente congénita) com retinite pigmentosa e perda progressiva da visão."},"pl":{"name":"Zespół Ushera","synonyms":["USH","Zwyrodnienie barwnikowe siatkówki - głuchota"],"definition":"Zespół Ushera (Usher syndrome – US) charakteryzuje się połączeniem głuchoty czuciowo-nerwowej (najczęściej wrodzonej) z barwnikowym zwyrodnieniem siatkówki i postępującą utratą wzroku."},"cs":{"name":"Usherův syndrom","synonyms":["Syndrom zahrnující retinitis pigmentosa a hluchotu","USH"]},"uk":{"name":"Синдром Ушера (Ашера)","synonyms":["Синдром пігментної дегенерації сітківки - глухота","Синдром пігментного ретиніту - втрати слуху","USH"],"definition":"A rare ciliopathy characterized by congenital or childhood onset sensorineural hearing loss (HL) and retinitis pigmentosa (RP) that occurs in a second step with a night blindness and a progressive vision loss and, in some cases, vestibular dysfunction."},"zh":{"name":"Usher综合征","synonyms":["色素性视网膜炎-听力丧失综合征"]},"tr":{"name":"Usher sendromu","synonyms":["USH","Retinitis pigmentosa-sağırlık sendromu","Retinitis pigmentosa-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"276900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"276901","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"276902","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"276904","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"500004","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":"605472","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606943","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611383","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612632","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614504","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614990","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":"E","icd_relation":"specific","validated":true,"icd11_uri":"1452641873"},{"source":"MONDO","code":"0019501","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D052245","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271097","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7843","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063396","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":156177,"name":"Retinal ciliopathy due to mutation in Usher gene","classifications":[156]}],"children":[{"orpha":231169,"name":"Usher syndrome type 1","type":"Clinical subtype"},{"orpha":231178,"name":"Usher syndrome type 2","type":"Clinical subtype"},{"orpha":231183,"name":"Usher syndrome type 3","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":231169,"name":"Usher syndrome type 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"],"via":{"orpha":231169,"name":"Usher syndrome type 1"}},{"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"],"via":{"orpha":231169,"name":"Usher syndrome type 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"],"via":{"orpha":231169,"name":"Usher syndrome type 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"],"via":{"orpha":231169,"name":"Usher syndrome type 1"}},{"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"],"via":{"orpha":231178,"name":"Usher syndrome type 2"}},{"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"],"via":{"orpha":231183,"name":"Usher syndrome type 3"}},{"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"],"via":{"orpha":231183,"name":"Usher syndrome type 3"}},{"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"],"via":{"orpha":231183,"name":"Usher syndrome type 3"}},{"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"],"via":{"orpha":231169,"name":"Usher syndrome type 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"],"via":{"orpha":231183,"name":"Usher syndrome type 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"],"via":{"orpha":231183,"name":"Usher syndrome type 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"],"via":{"orpha":231178,"name":"Usher syndrome type 2"}},{"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"],"via":{"orpha":231169,"name":"Usher syndrome type 1"}},{"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"],"via":{"orpha":231169,"name":"Usher syndrome type 1"}},{"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"],"via":{"orpha":231169,"name":"Usher syndrome type 1"}},{"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"],"via":{"orpha":231178,"name":"Usher syndrome type 2"}},{"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"],"via":{"orpha":231178,"name":"Usher syndrome type 2"}},{"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"],"via":{"orpha":231178,"name":"Usher syndrome type 2"}}],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":4.53,"area":"Worldwide","status":"Validated","source":"15178965[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Denmark","status":"Validated","source":"9212179[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.2,"area":"Germany","status":"Validated","source":"12107518[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.2,"area":"United Kingdom","status":"Validated","source":"9135408[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.6,"area":"Norway","status":"Validated","source":"3594933[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.2,"area":"Spain","status":"Validated","source":"15178965[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Finland","status":"Validated","source":"5516287[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.4,"area":"United States","status":"Validated","source":"6885960[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Colombia","status":"Validated","source":"1756603[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Specific population","status":"Validated","source":"14569126[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-03","source":"35076463[PMID]_20301515[PMID]_20301442[PMID]","terms":[{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001751","label":"Abnormal vestibular function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008568","label":"Vestibular areflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011025","label":"Abnormality of cardiovascular system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011073","label":"Abnormality of dental color","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010780","label":"Hyperacusis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007994","label":"Peripheral visual field loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Occasional (29-5%)","criteria":null}]}}