{"orpha":314572,"name":"Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314572/","orphanet_url":"https://www.orpha.net/en/disease/detail/314572","names":{"fr":{"name":"Leucoencéphalopathie autosomique récessive-infarctus cérébraux-rétinite pigmentaire","definition":"Maladie neurologique rare caractérisée par un retard global de développement, une déficience intellectuelle, des lésions ischémiques multiples visibles à l'IRM cérébrale, des troubles du comportement, une dystonie, des mouvements choréiques et un syndrome pyramidal, une dysmorphie faciale (hypertélorisme, palais ogival, macroglossie), une rétinite pigmentaire, une scoliose, des crises convulsives."},"de":{"name":"Autosomal-rezessive Leukoenzephalopathie-ischämischer Schlaganfall-Retinitis pigmentosa-Syndrom"},"es":{"name":"Síndrome de leucoencefalopatía-ictus isquémico-retinosis pigmentaria autosómico recesivo","definition":"Es una enfermedad neurológica poco frecuente caracterizada por retraso global del desarrollo, discapacidad intelectual, múltiples lesiones isquémicas en las imágenes de resonancia magnética cerebral, anomalías conductuales, distonía, movimientos coreicos y síndrome piramidal, dismorfia facial (hipertelorismo, paladar ojival, macroglosia), retinosis pigmentaria, escoliosis y crisis epilépticas."},"it":{"name":"Sindrome autosomica recessiva da leucoencefalopatia, ictus ischemico e retinite pigmentosa","definition":"La sindrome autosomica recessiva che associa la leucoencefalopatia, l'ictus ischemico e la retinite pigmentosa è una malattia neurologica rara, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva, lesioni ischemiche multiple evidenti alla RMN cerebrale, anomalie del comportamento, distonia, movimenti coreici, sindrome piramidale e dismorfismi facciali (ipertelorismo, palato ogivale, macroglossia), retinite pigmentosa, scoliosi e crisi epilettiche."},"nl":{"name":"Autosomaal recessieve leuko-encefalopathie - ischemische beroerte - retinitis pigmentosa-syndroom","definition":"Een zeldzame neurologische ziekte, gekarakteriseerd door algehele ontwikkelingsachterstand, intellectuele achterstand, multipele ischemische laesies zichtbaar bij MRI van de hersenen, gedragsafwijkingen, dystonie, choreatische bewegingen en piramidaal syndroom, faciale dysmorfie (hypertelorisme, gebogen verhemelte, macroglossie), retinitis pigmentosa, scoliose, en insulten."},"pt":{"name":"Síndrome de leucoencefalopatia autosómica recessiva-acidente vascular cerebral isquémico-retinite pigmentosa"},"pl":{"name":"Autosomalny recesywny zespół leukoencefalopatii, udaru niedokrwiennego i zwyrodnienia barwnikowego siatkówki","definition":"*Autosomalny recesywny zespół leukoencefalopatii, udaru niedokrwiennego i zwyrodnienia barwnikowego siatkówki jest rzadką chorobą neurologiczną, która charakteryzuje się całościowym opóźnieniem rozwoju, niepełnosprawnością intelektualną, mnogimi zmianami niedokrwiennymi w MRI mózgu, zaburzeniami zachowania, dystonią, ruchami pląsawiczymi i zespołem piramidowym, dysmorfią twarzy (hiperteloryzm, łukowato wysklepione podniebienie, makroglosja – olbrzymi język), zwyrodnieniem barwnikowym siatkówki, skoliozą, drgawkami."},"cs":{"name":"Autozomálně recesivní syndrom leukoencefalopatie s ischemickou mozkovou příhodou a retinitis pigmentosa"},"uk":{"name":"Аутосомно-рецесивний синдром лейкоенцефалопатіїя-ішемічного інсульту-пігментної дегенерації сітківки","definition":"A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures."},"zh":{"name":"常染色体隐性遗传脑白质病-缺血性脑卒中-视网膜色素变性综合征","definition":"一种罕见的神经系统疾病,其特征是整体发育迟缓,智力障碍,脑部MRI显示多个区域缺血性病变,行为异常,肌张力障碍,舞蹈病和锥体综合症,面部先天性畸形(眼距过宽,拱形腭,巨舌),视网膜色素变性,脊柱侧弯,癫痫发作。"},"tr":{"name":"Otozomal resesif lökoensefalopati-iskemik inme-retinitis pigmentosa sendromu"}},"xrefs":[{"source":"ICD-10","code":"I67.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017804","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749919","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]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"22436252[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}