{"orpha":370997,"name":"Muscle-eye-brain disease with bilateral multicystic leucodystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MEB disease with bilateral multicystic leucodystrophy"],"definition":"A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370997/","orphanet_url":"https://www.orpha.net/en/disease/detail/370997","names":{"fr":{"name":"Syndrome muscle-oeil-cerveau avec leucodystrophie multikystique bilatérale","synonyms":["Syndrome MEB avec leucodystrophie multikystique bilatérale"],"definition":"Alpha-dystroglycanopathie musculaire congénitale rare d'origine génétique, avec atteinte cérébrale et oculaire, caractérisée par un phénotype sévère de type syndrome muscle-oeil-cerveau associé à une déficience intellectuelle, une dystrophie musculaire, une macrocéphalie et une maladie multikystique bilatérale étendue affectant la substance blanche."},"de":{"name":"Muskel-Auge-Gehirn-Krankheit mit bilateraler multizystischer Leukodystrophie","synonyms":["MEB-Krankheit mit bilateraler multizystischer Leukodystrophie","Muscle-Eye-Brain-Erkrankung mit bilateraler multizystischer Leukodystrophie"],"definition":"Eine seltene kongenitale Alpha-Dystroglykanopathie mit Gehirn- und Augenanomalien, die durch einen schweren Phänotyp gekennzeichnet ist (ähnlicher der Muskel-Augen-Hirn-Krankheit) und mit Intelligenzminderung, Muskeldystrophie, Makrozephalie und einer ausgedehnten bilateralen multizystischen Erkrankung der weißen Substanz einhergeht."},"es":{"name":"Enfermedad de músculo-ojo-cerebro con leucodistrofia multiquística bilateral","definition":"Es una alfa-distroglicanopatía muscular congénita poco frecuente con anomalías cerebrales y oculares caracterizada por un fenotipo grave similar a la enfermedad músculo-ojo-cerebro asociada a discapacidad intelectual, distrofia muscular, macrocefalia y enfermedad bilateral multiquística extensa de la sustancia blanca."},"it":{"name":"Malattia muscolo-occhio-cervello con leucodistrofia multicistica bilaterale","synonyms":["Malattia MEB con leucodistrofia multicistica bilaterale"],"definition":"È un'alfa-distroglicanopatia muscolare congenita rara, di origine genetica, associata ad anomalie cerebrali e oculari, e caratterizzata da un quadro clinico grave che ricorda la malattia muscolo-occhio-cervello, associata a disabilità intellettiva, distrofia muscolare, macrocefalia e malattia multicistica bilaterale generalizzata della sostanza bianca."},"nl":{"name":"Spier-oog-hersenziekte met bilaterale multicystische leukodystrofie","synonyms":["MEB-ziekte met bilaterale multicystische leukodystrofie"],"definition":"Een zeldzame congenitale musculaire alfa-dystroglycanopathie met anomalieën van hersenen en oog, gekenmerkt door een ernstig spier-oog-hersenziekte-achtig fenotype geassocieerd met intellectuele achterstand, spierdystrofie, macrocefalie, en uitgebreide bilaterale multicystische wittestofziekte."},"pt":{"name":"Doença do músculo-olho-cérebro com leucodistrofia multiquística bilateral","definition":"Alfa-distroglicanopatia muscular congénita rara com anomalias cerebrais e oculares, caracterizada por um fenótipo grave semelhante ao da doença do músculo-olho-cérebro associado a perturbação do desenvolvimento intelectual, distrofia muscular, macrocefalia e doença multiquística bilateral extensa da substância branca."},"pl":{"name":"Choroba miesień-oko-mózg z obustronną wielotorbielowatą leukodystrofią","synonyms":["Choroba MEB z obustronną wielotorbielowatą leukodystrofią"]},"cs":{"name":"Postižení svalů, očí a mozku s oboustrannou multicystickou leukodystrofií","synonyms":["MEB nemoc s oboustrannou multicystickou leukodystrofií"]},"uk":{"name":"Мязово-очно-мозкова хвороба з двобічною мультикістозною лейкодистрофією","synonyms":["Хвороба MEB з двобічною мультикістозною лейкодистрофією"],"definition":"A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease."},"zh":{"name":"肌眼脑疾病伴双侧多囊性脑白质营养不良","synonyms":["MEB病伴双侧多囊性脑白质营养不良"],"definition":"本病是一种罕见的先天性α-抗肌萎缩相关糖蛋白病伴眼脑异常，其特征为严重的肌肉-眼-脑疾病样表型，与智力障碍、肌营养不良、大头畸形和扩大的双侧多囊白质疾病相关。"},"tr":{"name":"Bilateral multikistik lökodistrofi ile seyreden kas-göz-beyin hastalığı","synonyms":["Bilateral multikistik lökodistrofi ile seyreden MEB hastalığı"]}},"xrefs":[{"source":"OMIM","code":"616538","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018280","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191414","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":352687,"name":"Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies","classifications":[147,156,181]},{"orpha":371040,"name":"Primary qualitative or quantitative defects of alpha-dystroglycan","classifications":[156]}],"children":[],"genes":[{"symbol":"DAG1","name":"dystroglycan 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24052401[PMID]","hgnc":"2666","ensembl":"ENSG00000173402","omim":"128239","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24052401[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24052401[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-18","source":"24052401[PMID]","terms":[{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007361","label":"Abnormality of the pons","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031882","label":"Agyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002350","label":"Cerebellar cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025336","label":"Delayed ability to sit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011197","label":"EEG with focal spike waves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030046","label":"Hypoglycosylation of alpha-dystroglycan","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002415","label":"Leukodystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000557","label":"Buphthalmos","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Occasional (29-5%)","criteria":null}]}}