{"orpha":369847,"name":"Intellectual disability-hyperkinetic movement-truncal ataxia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, syndromic intellectual disability disease characterized by global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (e.g. exophoria, anisometropia, amblyopia) have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369847/","orphanet_url":"https://www.orpha.net/en/disease/detail/369847","names":{"fr":{"name":"Syndrome de déficience intellectuelle-mouvements hyperkinétiques-ataxie tronculaire","definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par un retard global de développement, une microcéphalie, une déficience intellectuelle légère à modérée, une ataxie tronculaire, une chorée affectant le tronc et les membres ou généralisée, et des taux élevés de créatine kinase sérique. Les caractéristiques associées sont variables : atrophie cérébrale légère, faiblesse musculaire ou hypotonie dans la petite enfance, et/ou convulsions. Des anomalies oculaires (par exemple, exophorie, anisométropie, amblyopie) ont été rapportées."},"de":{"name":"Intelligenzminderung-Hyperkinetische Bewegungsstörungen-Trunkale Ataxie-Syndrom","definition":"Eine seltene, genetisch bedingte, syndromale Form der Intelligenzminderung, die gekennzeichnet ist durch eine globale Entwicklungsverzögerung, Mikrozephalie, leichte bis mittelschwere Intelligenzminderung, trunkale Ataxie, Rumpf- und Gliedmaßenbewegungen oder generalisierte, choreiforme Bewegungen und erhöhte Kreatinkinase-Werte im Serum. Zu den variabel assoziierten Merkmalen gehören leichte zerebrale Atrophie, Muskelschwäche oder Hypotonie in der frühen Kindheit und/oder Krampfanfälle. Es wurde über Augenanomalien (z. B. Exophorie, Anisometropie, Amblyopie) berichtet."},"es":{"name":"Síndrome de discapacidad intelectual-movimiento hipercinético-ataxia troncal","definition":"Es una discapacidad intelectual sindrómica, genética y poco frecuente, caracterizada por retraso global del desarrollo, microcefalia, discapacidad intelectual leve a moderada, ataxia troncal, movimientos coreiformes en tronco y extremidades o generalizados, y niveles elevados de creatinquinasa sérica. Hallazgos asociados de forma variable incluyen leve atrofia cerebral, debilidad muscular o hipotonía en la infancia temprana y/o crisis comiciales. También se han descrito anomalías oculares (p. ej. exoforia, anisometropía, ambliopía)."},"it":{"name":"Sindrome da disabilità intellettiva, ipercinesia e atassia del tronco","definition":"È una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da ritardo dello sviluppo globale, microcefalia, disabilità intellettiva da lieve a moderata, atassia del tronco, movimenti coreiformi del tronco e degli arti, oppure generalizzati, e livelli elevati di creatin-chinasi nel siero. Si associa in maniera variabile all'atrofia cerebrale lieve, alla debolezza o all'ipotonia muscolare ad esordio nella prima infanzia, e/o alle crisi epilettiche. Sono state riportate anomalie oculari (ad es. esoforia, anisometropia, ambliopia)."},"nl":{"name":"Intellectuele achterstand - hyperkinetische beweging - rompataxie-syndroom","definition":"Een zeldzame, genetische, syndromale intellectuele beperking die gekarakteriseerd wordt door algehele ontwikkelingsachterstand, microcefalie, milde tot matige intellectuele achterstand, rompataxie, choreïforme bewegingen van romp en ledematen of gegeneraliseerde choreïforme bewegingen, en verhoogde creatinekinasegehaltes in het serum. Variabel geassocieerde kenmerken zijn onder meer milde cerebrale atrofie, musculaire zwakte of hypotonie in de vroege kindertijd, en/of insulten. Oculaire afwijkingen (e.g. exoforie, anisometropie, amblyopie) werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-movimentos hipercinéticos-ataxia do tronco"},"pl":{"name":"Zespół niepełnosprawność intelektualna-ruchy hiperkinetyczne-ataksja tułowia"},"cs":{"name":"Syndrom zahrnující mentální retardaci, hyperkinetické pohyby a trunkální ataxii"},"uk":{"name":"Синдром інтелектуальної недостатності-гіперкінетичної рухової атаксії","definition":"A rare, genetic, syndromic intellectual disability disease characterized by global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (e.g. exophoria, anisometropia, amblyopia) have been reported."},"zh":{"name":"智力障碍-多动-躯干共济失调综合征","definition":"本病是一种罕见的遗传性综合智力障碍疾病，其特征为全面发育迟缓、小头畸形、轻至中智力障碍、躯干和四肢共济失调，或全身舞蹈性运动，且血清肌酸激酶水平会有所升高。可变的相关特征包括轻度脑萎缩、幼时肌无力或低张力和/或癫痫发作。眼部异常(如外斜视、屈光参差、弱视)也已被报道。"},"tr":{"name":"Zihinsel yetersizlik-hiperkinetik hareket-trunkal ataksi sendromu"}},"xrefs":[{"source":"ICD-10","code":"G25.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018243","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5192595","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":306715,"name":"Rare choreic movement disorder","classifications":[181]},{"orpha":183521,"name":"Rare genetic movement disorder","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TRAPPC11","name":"trafficking protein particle complex subunit 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23830518[PMID]","hgnc":"25751","ensembl":"ENSG00000168538","omim":"614138","loci":["4q35.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"23830518[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-09-05","source":"23830518[PMID]_26322222[PMID]_27862579[PMID]_27707803[PMID]","terms":[{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009020","label":"Exercise-induced muscle fatigue","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:0002487","label":"Hyperkinetic movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006785","label":"Limb-girdle muscular dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005133","label":"Right ventricular dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}