{"orpha":1475,"name":"Renal coloboma syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Coloboma of optic nerve with renal disease","Papillo-renal syndrome"],"definition":"A genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1475/","orphanet_url":"https://www.orpha.net/en/disease/detail/1475","names":{"fr":{"name":"Syndrome rein-colobome","synonyms":["Syndrome de colobome du nerf optique-néphropathie","Syndrome papillo-rénal"],"definition":"Le syndrome rein-colobome (SRC) est une anomalie génétique entraînant dysplasie du nerf optique et hypo-dysplasie rénale."},"de":{"name":"Renales-Kolobom-Syndrom","synonyms":["Kolobome des Sehnervs - Nierenkrankheit","Nieren-Kolobom-Syndrom","Papillo-renales Syndrom"],"definition":"Das Renale Kolobom-Syndrom (RCS) ist eine genetische Krankheit mit Sehnervdysplasie und Nierenhypo/dysplasie."},"es":{"name":"Síndrome renal-coloboma","synonyms":["Coloboma del nervio óptico con enfermedad renal","Síndrome papilo-renal"],"definition":"Es una enfermedad genética caracterizada por una displasia del nervio óptico e hipodisplasia renal."},"it":{"name":"Sindrome reni-coloboma","synonyms":["Coloboma del nervo ottico con malattia renale","Sindrome papillo-renale"],"definition":"La sindrome coloboma-renale (RCS) è una malattia genetica da displasia del nervo ottico e ipodisplasia renale."},"nl":{"name":"Renaal coloboom-syndroom","synonyms":["Coloboom van oogzenuw met nierziekte","Papillorenaal syndroom"],"definition":"Een genetische aandoening gekarakteriseerd door dysplasie van oogzenuw en renale hypodysplasie."},"pt":{"name":"Síndrome rim coloboma","synonyms":["Coloboma do nervo ótico com nefropatia"],"definition":"Doença genética caracterizada por displasia do nervo óptico e hipodisplasia renal."},"pl":{"name":"Zespół rozszczepu narządu wzroku i wady nerek","synonyms":["Szczelina nerwu wzrokowego z chorobą nerek","Zespół brodawkowo-nerkowy"]},"cs":{"name":"Renální-kolobomální syndrom","synonyms":["Kolobom optického nervu s poruchou ledvin","Papilorenální syndrom"]},"uk":{"name":"Синдром ниркової колобоми","synonyms":["Колобома зорового нерва з нирковою недостатністю","Папіло-ренальний синдром"],"definition":"A genetic condition characterized by optic nerve dysplasia and renal hypodysplasia."},"zh":{"name":"肾-眼底缺损综合征","synonyms":["视神经缺损伴肾脏疾病"]},"tr":{"name":"Renal kolobom sendromu","synonyms":["Papillo-renal sendrom","Böbrek hastalığı ile seyreden optik sinir kolobomu"]}},"xrefs":[{"source":"OMIM","code":"120330","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q60.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA13.7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"419164361"},{"source":"MONDO","code":"0007352","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537168","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852759","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4106","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10090293","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519345,"name":"Rare disorder with optic disc malformation","classifications":[147,156,189]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"PAX2","name":"paired box 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22213154[PMID]_20301624[PMID]","hgnc":"8616","ensembl":"ENSG00000075891","omim":"167409","loci":["10q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":180.0,"area":"Worldwide","status":"Validated","source":"22213154[PMID]"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001093","label":"Optic nerve dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000588","label":"Optic disc coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000480","label":"Retinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}