{"orpha":542310,"name":"Leukoencephalopathy with calcifications and cysts","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LCC","Labrune syndrome"],"definition":"A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-542310/","orphanet_url":"https://www.orpha.net/en/disease/detail/542310","names":{"fr":{"name":"Leucoencéphalopathie avec kystes et calcifications","synonyms":["Syndrome de Labrune"],"definition":"Maladie génétique rare des petites artères cérébrales caractérisée par une leucoencéphalopathie, une calcification et des kystes cérébraux dus à une microangiopathie cérébrale diffuse entraînant une dégénérescence parenchymateuse microkystique et macrocystique. La maladie peut se présenter à tout âge, de la petite enfance à la fin de l'âge adulte, et se manifeste par une dégénérescence cérébrale progressive. Les signes cliniques sont variables, mais limités au système nerveux central, et incluent, entre autres, une régression des performances cognitives, des crises convulsives et des troubles du mouvement avec une association de symptômes d'une atteinte du système pyramidal, extrapyramidal et cérébelleux."},"de":{"name":"Leukoenzephalopathie mit Kalzifikationen und Zysten","synonyms":["LCC","Labrune-Syndrom"],"definition":"Eine seltene genetische Erkrankung der kleinen Hirngefäße mit Leukoenzephalopathie, zerebraler Kalzifikation und Zystenbildung aufgrund einer diffusen zerebralen Mikroangiopathie, die zu mikro- und makrozystischer parenchymatöser Degeneration führt. Die Erkrankung kann in jedem Alter von der frühen Kindheit bis zum späten Erwachsenenalter auftreten und äußert sich in einer fortschreitenden zerebralen Degeneration. Die Symptome sind variabel, beschränken sich jedoch auf das zentrale Nervensystem und umfassen unter anderem eine Verlangsamung der kognitiven Leistungen, Krampfanfälle und Bewegungsstörungen mit einer Kombination von pyramidalen, extrapyramidalen und zerebellären Merkmalen"},"es":{"name":"Leucoencefalopatía con calcificaciones y quistes","synonyms":["LCC","Síndrome de Labrune"],"definition":"Es una enfermedad cerebral de pequeño vaso de origen genético poco frecuente caracterizada por una leucoencefalopatía con calcificaciones cerebrales y quistes debidos a una microangiopatía cerebral difusa resultando en una degeneración parenquimatosa micro- y macroquística. El trastorno puede debutar a cualquier edad, desde la infancia temprana hasta la edad adulta tardía, y se manifiesta como una degeneración cerebral progresiva. Los síntomas son variables, aunque están restringidos al sistema nervioso central, e incluyen, entre otros, disminución del rendimiento cognitivo, crisis epilépticas, y trastornos del movimiento con una combinación de características piramidales, extrapiramidales y cerebelosas."},"it":{"name":"Leucoencefalopatia con calcificazioni e cisti","definition":"Si tratta di una malattia genetica rara dei piccoli vasi cerebrali, caratterizzata da leucoencefalopatia e da calcificazioni e cisti cerebrali secondarie a una microangiopatia cerebrale diffusa che esita nella degenerazione parenchimale microcistica e macrocistica. La malattia esordisce tra la prima infanzia e la tarda età adulta con degenerazione cerebrale progressiva. I sintomi sono variabili, interessano solo il sistema nervoso centrale e comprendono il rallentamento della funzione cognitiva, le crisi epilettiche e i disturbi del movimento, con sintomi piramidali, extrapiramidali e cerebellari."},"nl":{"name":"Leuko-encefalopathie met calcificaties en cysten","synonyms":["LCC","Syndroom van Labrune"],"definition":"Een zeldzame, genetische aandoening van cerebrale kleine bloedvaten, gekarakteriseerd door leuko-encefalopathie en cerebrale calcificatie en cysten als gevolg van diffuse cerebrale microangiopathie die leidt tot microcystische en macrocystische parenchymale degeneratie. De aandoening kan op eender welke leeftijd vanaf de kindertijd tot de late volwassenheid optreden, en manifesteert zich als progressieve cerebrale degeneratie. Symptomen zijn variabel maar beperkt tot centraal zenuwstelsel, en omvatten onder meer vertraging van cognitieve prestatie, insulten, en bewegingsstoornis met een combinatie van piramidale, extrapiramidale, en cerebellaire kenmerken."},"pt":{"name":"Leucoencefalopatia com calcificações e quistos"},"pl":{"name":"Leukoencefalopatia ze zwapnieniami i torbielami","synonyms":["Zespół Labrunego"]},"cs":{"name":"Leukoencefalopatie s kalcifikacemi a cystami","synonyms":["LCC","Labrunův syndrom"]},"uk":{"name":"Лейкоенцефалопатія з кальцифікатами та кістами","synonyms":["Синдром Лабрюна","LCC"],"definition":"A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features."},"zh":{"name":"脑白质病伴钙化和囊肿","synonyms":["Labrune综合征"],"definition":"一种罕见的遗传性大脑小血管病，由于弥漫性大脑微血管病导致微囊性和大囊性实质变性，以脑白质病和脑钙化、囊肿为特征。本病可出现在任何年龄，从儿童早期到成年晚期，表现为进行性大脑变性。症状不一，但仅限于中枢神经系统，主要包括认知能力减慢、癫痫发作、运动障碍等，并兼有锥体束、锥体束外和小脑的特征。"},"tr":{"name":"Kireçlenme ve kist ile seyreden lökoensefalopati","synonyms":["LCC","Labrune sendromu"]}},"xrefs":[{"source":"OMIM","code":"614561","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I67.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013803","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C000598644","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3281200","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10732","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084766","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":477754,"name":"Genetic cerebral small vessel disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SNORD118","name":"small nucleolar RNA, C/D box 118","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28177126[PMID]_27571260[PMID]","hgnc":"32952","ensembl":"ENSG00000200463","omim":"616663","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"27571260[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27571260[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-10-07","source":"33029936[PMID]_27571260[PMID]_31521395[PMID]_34482485[PMID]_27772754[PMID]","terms":[{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010576","label":"Intracranial cystic lesion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002352","label":"Leukoencephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002135","label":"Basal ganglia calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002461","label":"Dense calcifications in the cerebellar dentate nucleus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007229","label":"Intracerebral periventricular calcifications","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100320","label":"Rosenthal fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007346","label":"Subcortical white matter calcifications","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011153","label":"Focal motor seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007291","label":"Posterior fossa cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000725","label":"Psychotic episodes","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Excluded (0%)","criteria":null}]}}