{"orpha":75382,"name":"Oguchi disease","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital stationary night blindness, Oguchi type","Oguchi syndrome"],"definition":"Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75382/","orphanet_url":"https://www.orpha.net/en/disease/detail/75382","names":{"fr":{"name":"Maladie d'Oguchi","synonyms":["Cécité nocturne stationnaire congénitale type Oguchi","Syndrome d'Oguchi"],"definition":"La maladie d'Oguchi est une maladie rétinienne autosomique récessive caractérisée par une cécité nocturne congénitale stationnaire (CNCS) avec un phénomène de Mizuo-Nakamura."},"de":{"name":"Oguchi-Krankheit","synonyms":["Morbus Oguchi","Oguchi-Syndrom","Stationäre Nachtblindheit, kongenitale, Typ Oguchi"],"definition":"Die Oguchi-Krankheit ist eine autosomal-rezessiv vererbte Netzhaut-Erkrankung und gekennzeichnet durch kongenitale stationäre Nachtblindheit (CSNB; s. dort) und das Mizuo-Nakamura-Phänomen."},"es":{"name":"Enfermedad de Oguchi","synonyms":["Ceguera nocturna estacionaria congénita tipo Oguchi","Síndrome de Oguchi"],"definition":"La enfermedad de Oguchi es un trastorno retiniano autosómico recesivo caracterizado por una ceguera nocturna estable congénita (CSNB; consulte este término) y el fenómeno Mizuo-Nakamura."},"it":{"name":"Malattia di Oguchi","synonyms":["Cecità notturna permanente congenita, tipo Oguchi","Sindrome di Oguchi"],"definition":"La malattia di Oguchi è una retinopatia autosomica recessiva caratterizzata da cecità notturna stazionaria (CSNB; si veda questo termine) e dal fenomeno di Mizuo-Nakamura."},"nl":{"name":"Ziekte van Oguchi","synonyms":["Congenitale stationaire nachtblindheid, Oguchi-type","Oguchi's ziekte","Oguchisyndroom"],"definition":"Oguchiziekte is een autosomaal recessieve retinastoornis die wordt gekenmerkt door congenitale stationaire nachtblindheid (CSNB; zie deze term) en het Mizuo-Nakamuraverschijnsel."},"pt":{"name":"Doença de Oguchi","synonyms":["Cegueira noturna estacionária tipo Oguchi","Síndrome Oguchi"],"definition":"A doença de Oguchi é uma patologia autossómica recessiva da retina caracterizada por cegueira noturna congénita estacionária (CSNB; ver este termo) e fenómeno de Mizuo-Nakamura."},"pl":{"name":"Choroba Oguchiego","synonyms":["Wrodzona stacjonarna ślepota nocna, typ Oguchiego","Zespół Oguchiego"]},"cs":{"name":"Oguchiho nemoc","synonyms":["Oguchiho syndrom","Vrozená stacionární noční slepota, Oguchiho typ"]},"uk":{"name":"Хвороба Огучі","synonyms":["Вроджена стаціонарна нічна сліпота, тип Огучі","Синдром Огучі"],"definition":"Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon."},"zh":{"name":"先天性夜盲症","synonyms":["先天性静止性夜盲症，Oguchi型"]},"tr":{"name":"Oguchi hastalığı","synonyms":["Oguchi sendromu","Doğumsal sabit gece körlüğü, Oguchi tipi"]}},"xrefs":[{"source":"OMIM","code":"258100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613411","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H53.6","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1759055065"},{"source":"MONDO","code":"0019152","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537743","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1306122","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10118","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":215,"name":"Congenital stationary night blindness","classifications":[156,189]}],"children":[],"genes":[{"symbol":"GRK1","name":"G protein-coupled receptor kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"9020843[PMID]_19753316[PMID]","hgnc":"10013","ensembl":"ENSG00000185974","omim":"180381","loci":["13q34"]},{"symbol":"SAG","name":"S-antigen visual arrestin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15295660[PMID]_22419846[PMID]","hgnc":"10521","ensembl":"ENSG00000130561","omim":"181031","loci":["2q37.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-27","source":"31257036[PMID]_31864474[PMID]_ 32146548[PMID]_32953689[PMID]_25307992[PMID]","terms":[{"hpo":"HP:0007642","label":"Congenital stationary night blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007984","label":"Electronegative electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030824","label":"Mizuo phenomenon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000539","label":"Abnormality of refraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000608","label":"Macular degeneration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007641","label":"Dyschromatopsia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Excluded (0%)","criteria":null}]}}