{"orpha":2318,"name":"Joubert syndrome with oculorenal defect","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Arima syndrome","CORS","Cerebellooculorenal syndrome","Dekaban-Arima syndrome","JS type B","JS-OR","Joubert syndrome with Senior-Loken syndrome"],"definition":"A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2318/","orphanet_url":"https://www.orpha.net/en/disease/detail/2318","names":{"fr":{"name":"Syndrome de Joubert avec atteinte oculo-rénale","synonyms":["CORS","JS type B","JS-OR","Syndrome cérébellooculorénal","Syndrome d'Arima","Syndrome de Dekaban-Arima","Syndrome de Joubert avec syndrome de Senior-Loken"],"definition":"Le syndrome de Joubert avec atteinte oculorénale est une forme rare du groupe des maladies associées au syndrome de Joubert (SJMA) et se caractérise par l'association des signes neurologiques du syndrome de Joubert à une atteinte à la fois rénale et oculaire."},"de":{"name":"Joubert-Syndrom mit okulo-renalem Defekt","synonyms":["Arima-Syndrom","CORS","Dekaban-Arima-Syndrom","JS Typ B","JS-OR","Joubert-Syndrom mit Senior-Loken-Syndrom","Zerebello-okulo-renales Syndrom"],"definition":"Das Joubert-Syndrom mit okulo-renalem Defekt ist ein seltener Subtyp des Joubert-Syndroms und verwandter Krankheiten (JSRDs; s. dort) und gekennzeichnet durch die neurologischen Symptome des JS in Verbindung mit Erkrankung der Nieren und Augen."},"es":{"name":"Síndrome de Joubert con defecto óculo-renal","synonyms":["CORS","JS tipo B","JS-OR","Síndrome cerebelo-óculo-renal","Síndrome de Arima","Síndrome de Dekaban-Arima","Síndrome de Joubert con síndrome de Senior-Loken"],"definition":"Es un subtipo poco frecuente del síndrome de Joubert (SJ) y trastornos relacionados (JSRD), y se caracteriza por los hallazgos neurológicos del SJ asociados a enfermedades renales y oculares."},"it":{"name":"Sindrome di Joubert associata a difetto oculorenale","synonyms":["CORS","JS, tipo B","JS-OR","Sindrome cerebello-oculo-renale","Sindrome di Arima","Sindrome di Dekaban-Arima","Sindrome di Joubert associata a sindrome di Senior-Loken"],"definition":"La sindrome di Joubert (SJ) con difetto oculorenale è un raro sottogruppo della sindrome di Joubert e dei disturbi correlati (JSRD; si veda questo termine); è caratterizzato dai segni clinici della SJ associati sia alla malattia renale che a quella oculare."},"nl":{"name":"Syndroom van Joubert met oculorenaal defect","synonyms":["CORS","Cerebello-oculo-renaal syndroom","JS type B","JS-OR","Syndroom van Arima","Syndroom van Dekaban-Arima","Syndroom van Joubert met syndroom van Senior-Loken"],"definition":"Een zeldzaam subtype van syndroom van Joubert (JS) en gerelateerde stoornissen (JSRD), gekarakteriseerd door de neurologische kenmerken van JS geassocieerd met zowel nier- als oogziekte."},"pt":{"name":"Síndrome Joubert com defeito oculorenal","synonyms":["Coloboma corio-retiniano-aplasia do vermis do cerebelo","Síndrome Dekaban-Arima","Síndrome Joubert-coloboma corio-retiniano bilateral"],"definition":"A síndrome de Joubert com deficiência oculorenal é um subtipo raro da síndrome de Joubert e doenças relacionadas (JSRD, consulte este termo), caracterizada pelas manifestações neurológicas da JS associadas a doença renal e ocular."},"pl":{"name":"Zespół Joubert z wadą narządu wzroku i nerek","synonyms":["CORS","JS-OR","JS typu B","Zespół Arima","Zespół Dekabana i Arima","Zespół móżdzkowo-oczno-nerkowy","Zespół Joubert z zespołem Seniora i Lokena"],"definition":"Rzadki podtyp zespołu Jouberta i zaburzeń pokrewnych, charakteryzujący się neurologicznymi cechami zespołu Jouberta, z towarzyszącą chorobę nerek i oczu."},"cs":{"name":"Joubertův syndrom s okulorenálním defektem","synonyms":["CORS","Cerebelookulorenální syndrom","JS typ B","JS-OR","Arimův syndrom","Dekabanův-Arimův syndrom","Joubertův a Seniorův-Lokenův syndrom","Dekaban-Arimův syndrom","Joubertův a Senior-Lokenův syndrom"]},"uk":{"name":"Синдром Жубера з окулоренальним дефектом","synonyms":["Синдром Аріми","Церебелоокулоренальний синдром","CORS","Синдром Декабана-Аріми","Синдром Жубера з синдромом Сеньора-Локена","JS тип B","JS-OR"],"definition":"A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease."},"zh":{"name":"Joubert综合征伴肾眼缺损","synonyms":["Joubert综合征伴Senior-Loken综合征"]},"tr":{"name":"Okülorenal defektli Joubert sendromu","synonyms":["CORS","JS-OR","JS tip B","Arima sendromu","Dekaban-Arima sendromu","Serebellookülorenal sendrom","Senior-Loken sendrom ile seyreden Joubert sendromu"]}},"xrefs":[{"source":"OMIM","code":"243910","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"608091","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610188","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612285","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614424","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614465","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614844","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"397835469"},{"source":"MONDO","code":"0009480","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537430","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855675","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9455","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":140874,"name":"Joubert syndrome","classifications":[147,156,181,189]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]}],"children":[],"genes":[{"symbol":"TMEM138","name":"transmembrane protein 138","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22282472[PMID]","hgnc":"26944","ensembl":"ENSG00000149483","omim":"614459","loci":["11q12.2"]},{"symbol":"CC2D2A","name":"coiled-coil and C2 domain containing 2A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301500[PMID]","hgnc":"29253","ensembl":"ENSG00000048342","omim":"612013","loci":["4p15.32"]},{"symbol":"CEP290","name":"centrosomal protein 290","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20615230[PMID]_20301500[PMID]","hgnc":"29021","ensembl":"ENSG00000198707","omim":"610142","loci":["12q21.32"]},{"symbol":"TMEM216","name":"transmembrane protein 216","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301500[PMID]","hgnc":"25018","ensembl":"ENSG00000187049","omim":"613277","loci":["11q13.1"]},{"symbol":"TMEM231","name":"transmembrane protein 231","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301500[PMID]_23012439[PMID]","hgnc":"37234","ensembl":"ENSG00000205084","omim":"614949","loci":["16q23.1"]},{"symbol":"TMEM237","name":"transmembrane protein 237","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301500[PMID]_22152675[PMID]","hgnc":"14432","ensembl":"ENSG00000155755","omim":"614423","loci":["2q33.1"]},{"symbol":"ZNF423","name":"zinc finger protein 423","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22863007[PMID]","hgnc":"16762","ensembl":"ENSG00000102935","omim":"604557","loci":["16q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"23845172[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002104","label":"Apnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002419","label":"Molar tooth sign on MRI","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000864","label":"Abnormality of the hypothalamus-pituitary axis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent 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