{"orpha":85136,"name":"Cystic leukoencephalopathy without megalencephaly","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CLWM"],"definition":"Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85136/","orphanet_url":"https://www.orpha.net/en/disease/detail/85136","names":{"fr":{"name":"Leucoencéphalopathie kystique sans mégalencéphalie","synonyms":["CLWM"],"definition":"La leucoencéphalopathie kystique sans mégalencéphalie est caractérisée par une leucoencéphalopathie non progressive, des kystes bilatéraux dans le lobe temporal antérieur, des anomalies de la matière blanche cérébrale et un déficit psychomoteur sévère. Moins de 50 cas ont été décrits à ce jour. Le mode de transmission est probablement autosomique récessif."},"de":{"name":"Zystische Leukoenzephalopathie ohne Megalenzephalie","synonyms":["CLWM"],"definition":"Dieses Syndrom ist gekennzeichnet durch eine nicht-progressive Leukenzephalopathie, Zysten im vorderen Anteil beider Temporallapen, Anomalien in der weißen Hirnsubstanz und schwere psychomotorische Retardierung."},"es":{"name":"Leucoencefalopatía quística sin megalencefalia","synonyms":["CLWM"],"definition":"Es un trastorno caracterizado por leucoencefalopatía no progresiva, quistes bilaterales en la parte anterior del lóbulo temporal, anomalías en la sustancia blanca cerebral y afectación psicomotora grave. Hasta la fecha se han descrito menos de 50 pacientes en la literatura. Probablemente la herencia sea autosómica recesiva."},"it":{"name":"Leucoencefalopatia cistica senza megalencefalia","synonyms":["CLWM"]},"nl":{"name":"Cystische leuko-encefalopathie zonder megalencefalie","synonyms":["CLWM"],"definition":"Cystische leuko-encefalopathie met megalencefalie wordt gekenmerkt door niet-progressieve leuko-encefalopathie, bilaterale cysten in voorste deel van temporaalkwab, anomalieën van cerebrale witte stof, en ernstige psychomotorische functiestoornis. Tot op heden werden minder dan 50 patiënten beschreven in de literatuur. Overerving gebeurt hoogst waarschijnlijk autosomaal recessief."},"pt":{"name":"Leucoencefalopatia quística sem megalencefalia"},"pl":{"name":"Leukoencefalopatia torbielowata bez wielkomózgowia","synonyms":["CLWM"]},"cs":{"name":"Cystická leukoencefalopatie bez megalencefalie","synonyms":["CLWM"]},"uk":{"name":"Кістозна лейкоенцефалопатія без мегаленцефалії","synonyms":["CLWM"],"definition":"Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive."},"zh":{"name":"囊性脑白质营养不良不伴巨脑","synonyms":["CLWM"]},"tr":{"name":"Megalensefalisiz kistik lökoensefalopati","synonyms":["CLWM"]}},"xrefs":[{"source":"OMIM","code":"612951","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618235","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C55.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1081165012"},{"source":"MONDO","code":"0013058","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567845","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2751843","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13199","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]}],"children":[],"genes":[{"symbol":"NDUFA2","name":"NADH:ubiquinone oxidoreductase subunit A2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28857146[PMID]","hgnc":"7685","ensembl":"ENSG00000131495","omim":"602137","loci":["5q31.3"]},{"symbol":"RNASET2","name":"ribonuclease T2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19525954[PMID]","hgnc":"21686","ensembl":"ENSG00000026297","omim":"612944","loci":["6q27"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}