{"orpha":414,"name":"Gyrate atrophy of choroid and retina","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HOGA","Hyperornithinemia","Hyperornithinemia-gyrate atrophy of choroid and retina syndrome","Ornithine aminotransferase deficiency"],"definition":"Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-414/","orphanet_url":"https://www.orpha.net/en/disease/detail/414","names":{"fr":{"name":"Atrophie gyrée choriorétinienne","synonyms":["Atrophie gyrée de la rétine","Déficit en ornithine aminotransférase","Hyperornithinémie"],"definition":"Dystrophie rétinienne héréditaire rare, caractérisée par une atrophie choriorétinienne progressive, une myopie et une cataracte précoce."},"de":{"name":"Atrophia gyrata der Chorioidea und Retina","synonyms":["HOGA","Hyperornithinämie","Hyperornithinämie - Atrophia gyrata der Aderhaut und Netzhaut","Ornithin-Aminotransferase-Mangel"],"definition":"Die Atrophia gyrata der Aderhaut und der Retina (GACR) ist eine sehr seltene, vererbte Netzhautdystrophie, die durch eine fortschreitende chorioretinale Atrophie, Myopie und einen frühen Katarakt gekennzeichnet ist."},"es":{"name":"Atrofia girata de la coroides y la retina","synonyms":["Deficiencia de ornitín aminotransferasa","HOGA","Hiperornitinemia","Hiperornitinemia-atrofia girada de la coroides y la retina"],"definition":"Es una distrofia retiniana hereditaria muy poco frecuente caracterizada por atrofia coriorretiniana progresiva, miopía y cataratas de aparición temprana."},"it":{"name":"Atrofia girata della coroide e della retina","synonyms":["Deficit di ornitina aminotransferasi","HOGA","Iperornitinemia","Iperornitinemia - atrofia girata della coroide e della retina"],"definition":"L'atrofia girata della coroide e della retina (GACR) è una distrofia retinica ereditaria molto rara, caratterizzata da atrofia corioretinica progressiva, miopia e cataratta precoce."},"nl":{"name":"Gyrate atrofie van choroidea en retina","synonyms":["Gyrate atrofie van het vaatvlies en het netvlies","HOGA","Hyperornithinemie","Hyperornithinemie - gyrate atrofie van choroidea en retina-syndroom","OAT-deficiëntie","Ornithine aminotransferasedeficiëntie"],"definition":"Gyrate atrofie van choroidea en retina (GACR) is een zeer zeldzame, erfelijke retinale dystrofie, die gekarakteriseerd wordt door progressieve chorioretinale atrofie, myopie en vroeg cataract."},"pt":{"name":"Atrofia girata da coróide e retina","synonyms":["Deficiência de ornitina aminotransferase","HOGA","Hiperornitinemia","Síndrome de hiperornitinemia-atrofia girata da coróide e da retina"]},"pl":{"name":"Zanik girlandowaty siatkówki i naczyniówki","synonyms":["Hiperornitynemia","Hiperornitynemia - zanik girlandowaty siatkówki i naczyniówki","HOGA","Niedobór aminotransferazy ornityny"]},"cs":{"name":"Gyrátová atrofie cévnatky a sítnice","synonyms":["HOGA","Hyperornithinémie","Syndrom zahrnující hyperornithinémii a gyrátovou atrofii cévnatky a sítnice","Deficit ornithinaminotransferázy"]},"uk":{"name":"Круглиста атрофія судинної оболонки та сітківки","synonyms":["HOGA","Гіперорнітинемія","Синдром гіперорнітинемії - гіратальної атрофії судинної оболонки та сітківки","Дефіцит орнітин-амінотрансферази"],"definition":"Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract."},"zh":{"name":"脉络膜视网膜环状萎缩","synonyms":["高鸟氨酸血症-脉络膜视网膜环状萎缩综合征"]},"tr":{"name":"Koroid ve retinanın girdap atrofisi","synonyms":["HOGA","Hiperornitinemi","Ornitin aminotransferaz eksikliği","Koroid ve retina sendromunun hiperornitinemi-girat atrofisi"]}},"xrefs":[{"source":"OMIM","code":"258870","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.9","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1167147004"},{"source":"MONDO","code":"0009796","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015799","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0018425","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6556","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":289869,"name":"Disorder of ornithine metabolism","classifications":[150,156]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":717317,"name":"Rare genetic isolated progressive predominantly chorioretinal disorder","classifications":[156]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]},{"orpha":716348,"name":"Rare isolated progressive predominantly chorioretinal disorder","classifications":[189]}],"children":[],"genes":[{"symbol":"OAT","name":"ornithine aminotransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23076989[PMID]","hgnc":"8091","ensembl":"ENSG00000065154","omim":"613349","loci":["10q26.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Finland","status":"Not yet validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-29","source":"8325736[PMID]_30578510[PMID]_1682785[PMID]","terms":[{"hpo":"HP:0000533","label":"Chorioretinal atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200065","label":"Chorioretinal degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012026","label":"Hyperornithinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001103","label":"Abnormal macular morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040031","label":"Chorioretinal hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001133","label":"Constriction of peripheral visual field","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007675","label":"Progressive night blindness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000523","label":"Subcapsular cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}