{"orpha":363540,"name":"Leukoencephalopathy with mild cerebellar ataxia and white matter edema","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging, MRI), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363540/","orphanet_url":"https://www.orpha.net/en/disease/detail/363540","names":{"fr":{"name":"Leucoencéphalopathie avec ataxie cérébelleuse modérée et oedème de la substance blanche","definition":"Maladie neurologique rare caractérisée par des anomalies spécifiques de la substance blanche à l'imagerie cérébrale (imagerie par résonance magnétique, IRM), ainsi que par une ataxie légère, des maux de tête, une légère déficience visuelle, des troubles d'apprentissage et des cas d'infertilité chez l'homme."},"de":{"name":"Leukoenzephalopathie mit milder zerebellärer Ataxie und Ödem der weißen Substanz","definition":"Eine seltene neurologische Erkrankung, die durch ein spezifisches Muster von Anomalien der weißen Substanz in der Bildgebung des Gehirns (Magnetresonanztomographie, MRT) sowie durch leichte Ataxie, Kopfschmerzen, leichte Sehstörungen, Lernschwierigkeiten und Fälle von männlicher Unfruchtbarkeit gekennzeichnet ist."},"es":{"name":"Leucoencefalopatía con ataxia cerebelosa leve y edema de sustancia blanca","definition":"Es una enfermedad neurológica poco frecuente caracterizada por un patrón específico de alteraciones de la sustancia blanca en la neuroimagen (imagen por resonancia magnética, IRM), así como ataxia leve, cefalea, alteración visual leve, dificultades de aprendizaje y casos de infertilidad masculina."},"it":{"name":"Leucoencefalopatia con lieve atassia cerebellare ed edema della sostanza bianca","definition":"Si tratta di una malattia rara caratterizzata da anomalie tipiche della sostanza bianca evidenti alle neuroimmagini (RMN cerebrale), lieve atassia, cefalea, modesto deficit visivo, difficoltà di apprendimento e, in alcuni pazienti, infertilità maschile."},"nl":{"name":"Leuko-encefalopathie met milde cerebellaire ataxie en oedeem van witte stof","definition":"Een zeldzame neurologische ziekte, gekarakteriseerd door een specifiek patroon van afwijkingen van witte stof bij beeldvorming (beeldvorming met magnetische resonantie, MRI), alsook milde ataxie, hoofdpijn, mild verlies van gezichtsvermogen, leermoeilijkheden, en gevallen van mannelijke infertiliteit."},"pt":{"name":"Leucoencefalopatia com ataxia cerebelosa ligeira e edema da substância branca"},"pl":{"name":"Leukoencefalopatia z łagodną ataksją móżdżkową i obrzękiem istoty białej"},"cs":{"name":"Leukoencefalopatie s mírnou cerebelární ataxií a edémem bílé hmoty","synonyms":["Leukoencefalopatie s mírnou mozečkovou ataxií a edémem bílé hmoty"]},"uk":{"name":"Лейкоенцефалопатія з легкою мозочковою атаксією та набряком білої речовини","definition":"A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging, MRI), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility."},"zh":{"name":"脑白质病伴轻度小脑共济失调和脑白质水肿","definition":"本病是一种罕见的神经系统疾病，其特征是脑部成像(磁共振成像，MRI)上白质异常的特定模式，以及轻度共济失调、头痛、轻度视力障碍、学习困难和男性不育症。"},"tr":{"name":"Hafif serebellar ataksi ve beyaz cevher ödem ile seyreden lökoensefalopati"}},"xrefs":[{"source":"OMIM","code":"615651","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014292","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4554120","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":538238,"name":"Neurological channelopathy of the central nervous system due to a genetic chloride channel defect","classifications":[156]}],"children":[],"genes":[{"symbol":"CLCN2","name":"chloride voltage-gated channel 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23707145[PMID]","hgnc":"2020","ensembl":"ENSG00000114859","omim":"600570","loci":["3q27.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"23707145[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}