{"orpha":220497,"name":"Joubert syndrome with renal defect","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["JS-R"],"definition":"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-220497/","orphanet_url":"https://www.orpha.net/en/disease/detail/220497","names":{"fr":{"name":"Syndrome de Joubert avec atteinte rénale","synonyms":["JS-R"],"definition":"Le syndrome de Joubert avec atteinte rénale 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 rénale sans rétinopathie."},"de":{"name":"Joubert-Syndrom mit Nierenstörung","synonyms":["JS-R","Joubert-Syndrom Typ 4","Joubert-syndrom Typ 7"],"definition":"Das Joubert-Syndrom mit Nierendefekt ist ein seltener Subtyp des Joubert-Syndroms und verwandter Krankeiten (JSRDs; s. dort) und gekennzeichnet durch die neurologischen Symptome des JS in Verbindung mit Nierenstörungen, aber ohne Retinopathie."},"es":{"name":"Síndrome de Joubert con enfermedad renal","synonyms":["JS-R"],"definition":"El síndrome de Joubert (SJ) con enfermedad renal es un subtipo poco frecuente del síndrome de Joubert y trastornos relacionados (JSRD, consulte este término), y se caracteriza por los rasgos neurológicos del SJ asociados con una enfermedad renal, con ausencia de retinopatía."},"it":{"name":"Sindrome di Joubert associata a difetto renale","synonyms":["JS-R"],"definition":"La sindrome di Joubert (JS) con difetto renale è un raro sottogruppo della sindrome di Joubert e dei disturbi correlati (JSRD; si veda questo termine); è caratterizzato dai segni neurologici della JS associati alla malattia renale, in assenza di retinopatia."},"nl":{"name":"Syndroom van Joubert met renaal defect","synonyms":["JS-R"],"definition":"Syndroom van Joubert met nierafwijkingen is een zeldzaam subtype van syndroom van Joubert en aanverwante aandoeningen (JSRD, zie deze term), gekenmerkt door de neurologische kenmerken van JS in combinatie met nierziekte, in de afwezigheid van retinopathie."},"pt":{"name":"Síndrome de Joubert com doença renal","definition":"A síndrome de Joubert com deficiência renal é um subtipo raro da síndrome de Joubert e patologias relacionadas (JSRD, consulte este termo) caracterizada pelas manifestações neurológicas da JS associadas a doença renal, na ausência de retinopatia."},"pl":{"name":"Zespół Joubert z wadą nerek","synonyms":["JS-R"]},"cs":{"name":"Joubertův syndrom s poruchou ledvin","synonyms":["JS-R"]},"uk":{"name":"Синдром Жубера з нирковим дефектом","synonyms":["JS-R"],"definition":"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy."},"zh":{"name":"Joubert综合征伴肾缺陷","synonyms":["JS-R"],"definition":"Joubert综合征伴肾缺陷是Joubert综合征及其相关疾病（JSRD，见该词条）的一个罕见亚型，其特点是与肾脏疾病相关的JS神经表现，而无视网膜病变。"},"tr":{"name":"Böbrek defekti ile seyreden Joubert sendromu","synonyms":["JS-R"]}},"xrefs":[{"source":"OMIM","code":"609583","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"611560","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614424","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q61.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1419767028"},{"source":"MONDO","code":"0012308","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274117","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10169","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":156162,"name":"Renal ciliopathy","classifications":[156]},{"orpha":156180,"name":"Retinal ciliopathy due to mutation in nephronophthisis gene","classifications":[156]}],"children":[],"genes":[{"symbol":"NPHP1","name":"nephrocystin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20615230[PMID]_20301500[PMID]","hgnc":"7905","ensembl":"ENSG00000144061","omim":"607100","loci":["2q13"]},{"symbol":"RPGRIP1L","name":"RPGRIP1 like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20615230[PMID]_20301500[PMID]","hgnc":"29168","ensembl":"ENSG00000103494","omim":"610937","loci":["16q12.2"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002793","label":"Abnormal pattern of respiration","frequency":"Very frequent (99-80%)","criteria":null},{"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:0000657","label":"Oculomotor apraxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","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:0030680","label":"Abnormal cardiovascular system morphology","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:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","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:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}