{"orpha":495844,"name":"C11ORF73-related autosomal recessive hypomyelinating leukodystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy","Hypomyelinating leukodystrophy due to hikeshi deficiency"],"definition":"A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-495844/","orphanet_url":"https://www.orpha.net/en/disease/detail/495844","names":{"fr":{"name":"Leucodystrophie hypomyélinisante autosomique récessive associée à C11ORF73","synonyms":["Leucodystrophie hypomyélinisante par déficit en hikeshi","Leucoencéphalopathie hypomyélinisante autosomique récessive associée à C11ORF73"],"definition":"Leucodystrophie rare caractérisée par une spasticité des membres inférieurs et un retard de développement sévère à début infantile, associés à un retard de myélinisation et des anomalies de la substance blanche périventriculaire. Les autres signes et symptômes rapportés sont une microcéphalie, une atrophie optique, un nystagmus, une ataxie et des convulsions."},"de":{"name":"Hypomyelinisierende Leukodystrophie, autosomal-rezessive, C11ORF73-assoziierte","synonyms":["Hypomyelinisierende Leukodystrophie durch Hikeshi-Mangel","Hypomyelinisierende Leukoenzephalopathie, autosomal-rezessive, C11ORF73-assoziierte"],"definition":"Eine seltene Leukodystrophie, die durch eine im Kindesalter einsetzende Spastik der unteren Gliedmaßen und eine schwere Entwicklungsverzögerung in Verbindung mit einer verzögerten Myelinisierung und periventrikulären Anomalien der weißen Substanz gekennzeichnet ist. Zu den weiteren berichteten Anzeichen und Symptomen gehören Mikrozephalie, Optikusatrophie, Nystagmus, Ataxie oder Krampfanfälle."},"es":{"name":"Leucodistrofia hipomielinizante autosómica recesiva asociada a C11ORF73","synonyms":["Leucodistrofia hipomielinizante por deficiencia de hikeshi","Leucoencefalopatía hipomielinizante autosómica recesiva asociada a C11ORF73","Leucoencefalopatía hipomielinizante autosómica recesiva asociada al gen C11ORF73"],"definition":"Es una leucodistrofia poco frecuente caracterizada por un inicio en la lactancia de espasticidad de las extremidades inferiores y un grave retraso del desarrollo psicomotor asociado a un retraso en la mielinización y alteraciones de la sustancia blanca periventricular. Otros signos y síntomas descritos incluyen microcefalia, atrofia óptica, nistagmo, ataxia o crisis epilépticas."},"it":{"name":"Leucodistrofia ipomielinizzante autosomica recessiva correlata a C11ORF73","definition":"Si tratta di una leucodistrofia rara caratterizzata da spasticità degli arti inferiori ad esordio infantile e grave ritardo dello sviluppo, associati ad un ritardo della mielinizzazione e ad anomalie della sostanza bianca periventricolare. Altri segni clinici sono la microcefalia, l'atrofia ottica, il nistagmo, l'atassia e le crisi epilettiche."},"nl":{"name":"C11ORF73-gerelateerde autosomaal recessieve hypomyeliniserende leukodystrofie","synonyms":["C11ORF73-gerelateerde autosomaal recessieve hypomyeliniserende leuko-encefalopathie","Hypomyeliniserende leukodystrofie als gevolg van hikeshi-deficiëntie"],"definition":"Een zeldzame leukodystrofie, gekarakteriseerd door infantiele aanvang van spasticiteit van onderste ledematen en ernstige ontwikkelingsachterstand, geassocieerd met vertraagde myelinisatie en afwijkingen van periventriculaire witte stof. Overige tekenen en symptomen die werden gerapporteerd, zijn onder meer microcefalie, opticusatrofie, nystagmus, ataxie, en insulten."},"pt":{"name":"Leucodistrofia hipomielinizante autossómica recessiva C11ORF73-relacionada"},"pl":{"name":"Leukodystrofia hipomielinizująca autosomalna recesywna związana z C11ORF73","synonyms":["Leukodystrofia hipomielinizująca z powodu niedoboru hikeshi"]},"cs":{"name":"C11ORF73-vázaná autozomálně recesivní hypomielinizační leukodystrofie","synonyms":["Hypomyelinating leukodystrophy due to hikeshi deficiency","C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy","Hypomyelinizační leukodystrofie způsobená deficitem hikeshi","Autozomálně recesivní hypomyelinizační leukoencefalopatie spojená s C11ORF73"]},"uk":{"name":"Аутосомно-рецесивна гіпомієлінізуюча лейкодистрофія, повязана з C11ORF73","synonyms":["Аутосомно-рецесивна гіпомієлінізуюча лейкоенцефалопатія, повязана з C11ORF73","Гіпомієлінізуюча лейкодистрофія внаслідок дефіциту хікеші"],"definition":"A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures."},"zh":{"name":"C11ORF73相关的常染色体隐性遗传性髓鞘发育不良-脑白质营养不良症","synonyms":["Hikeshi缺乏导致低髓鞘化脑白质营养不良症"],"definition":"一种罕见的脑白质营养不良症，其特征是婴儿期开始出现下肢痉挛和严重的发育迟缓，与髓鞘发育迟缓和脑室周围白质异常有关。其他报告的症状和体征包括小脑萎缩、视神经萎缩、眼球震颤、共济失调或癫痫发作。"},"tr":{"name":"C11ORF73 -ilişkili otozomal resesif hipomiyelinizan lökodistrofi","synonyms":["C11ORF73-ilişkili otozomal çekinik hipomiyelinizan lökoensefalopati","Hikeshi eksikliğine bağlı hipomiyelinizan lökodistrofi"]}},"xrefs":[{"source":"OMIM","code":"616881","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044642","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567456","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":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"HIKESHI","name":"heat shock protein nuclear import factor hikeshi","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26545878[PMID]_28000699[PMID]","hgnc":"26938","ensembl":"ENSG00000149196","omim":"614908","loci":["11q14.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"26545878[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26545878[PMID]"}],"phenotypes":null}