{"orpha":438114,"name":"RARS-related autosomal recessive hypomyelinating leukodystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-438114/","orphanet_url":"https://www.orpha.net/en/disease/detail/438114","names":{"fr":{"name":"Leucodystrophie hypomyélinisante autosomique récessive associée à RARS","definition":"Leucodystrophie génétique rare caractérisée par un retard de développement, une augmentation du tonus musculaire entraînant à terme une spasticité, une légère ataxie, un nystagmus, une dysarthrie, des tremblements intentionnels et une légère déficience intellectuelle. L'imagerie cérébrale révèle une hypomyélinisation affectant l'étage sus-tentoriel et sous-tentoriel."},"de":{"name":"Hypomyelinisierende Leukodystrophie, RARS-abhängige, autosomal-rezessive","definition":"Eine seltene, genetisch bedingte Leukodystrophie, die durch Entwicklungsverzögerung, erhöhten Muskeltonus, der später zu Spastizität führt, leichte Ataxie, Nystagmus, Dysarthrie, absichtlichen Tremor und leichte Intelligenzminderung gekennzeichnet ist. Die Bildgebung des Gehirns zeigt eine supratentorielle und infratentorielle Hypomyelinisierung."},"es":{"name":"Leucodistrofia hipomielinizante autosómica recesiva asociada a RARS","definition":"Es una leucodistrofia genética y poco frecuente caracterizada por retraso del desarrollo, aumento del tono muscular que evoluciona posteriormente a espasticidad, leve ataxia, nistagmo, disartria, temblor de acción y leve discapacidad intelectual. La neuroimagen revela hipomielinización supra- e infratentorial."},"it":{"name":"Leucodistrofia ipomielinizzante autosomica recessiva correlata a RARS","definition":"È una leucodistrofia genetica rara, caratterizzata da ritardo dello sviluppo, aumento del tono muscolare che successivamente esita nella spasticità, lieve atassia, nistagmo, disartria, tremore intenzionale e disabilità intellettiva lieve. Le neuroimmagini evidenziano ipomielinizzazione sopra- e infratentoriale."},"nl":{"name":"RARS-gerelateerde autosomaal recessieve hypomyeliniserende leukodystrofie","definition":"Een zeldzame, genetische leukodystrofie gekarakteriseerd door ontwikkelingsachterstand, verhoogde spiertonus die later leidt tot spasticiteit, milde ataxie, nystagmus, dysartrie, intentietremor, en milde intellectuele achterstand. Beeldvorming van de hersenen toont supratentoriële en infratentoriële hypomyelinisatie."},"pt":{"name":"Leucodistrofia hipomielinizante autossómica recessiva RARS-relacionada"},"pl":{"name":"Autosomalna recesywna leukodystrofia hipomielinizująca zależna od RARS"},"cs":{"name":"RARS-vázaná autozomálně recesivní hypomyelinizační leukodystrofie"},"uk":{"name":"RARS-повязана аутосомно-рецесивна гіпомієлінізуюча лейкодистрофія","definition":"A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination."},"zh":{"name":"RARS相关常染色体隐性遗传性低髓鞘性脑白质营养不良","definition":"一种罕见的遗传性白细胞营养不良，其特征在于发育迟缓，肌肉张力增加，导致后来出现痉挛，轻度共济失调，眼球震颤，构音障碍，意向性震颤和轻度智力障碍。脑部成像显示幕上和幕下髓鞘化程度低。"},"tr":{"name":"RARS-ilişkili otozomal resesif hipomiyelinizan lökodistrofi"}},"xrefs":[{"source":"OMIM","code":"616140","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014506","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015323","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":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"RARS1","name":"arginyl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24777941[PMID]","hgnc":"9870","ensembl":"ENSG00000113643","omim":"107820","loci":["5q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"24777941[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24777941[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-25","source":"24777941[PMID]_13558772[PMID]_27234264[PMID]_25649058[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006808","label":"Cerebral hypomyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007281","label":"Developmental stagnation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006895","label":"Lower limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007153","label":"Progressive extrapyramidal movement disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007179","label":"Absent smooth pursuit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007024","label":"Pseudobulbar paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}