{"orpha":370022,"name":"Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Poretti-Boltshauser syndrome"],"definition":"A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370022/","orphanet_url":"https://www.orpha.net/en/disease/detail/370022","names":{"fr":{"name":"Syndrome d'ataxie-déficience intellectuelle-apraxie oculomotrice-kystes cérébelleux","synonyms":["Syndrome de Poretti-Boltshauser"],"definition":"Le syndrome d'ataxie-déficience intellectuelle-apraxie oculomotrice-kystes cérébelleux est une maladie neuro-ophtalmologique rare caractérisée par une ataxie cérébelleuse non progressive, un retard du développement moteur et du langage, un déficit intellectuel, ainsi que des anomalies oculaires (apraxie oculaire, strabisme, amblyopie, dystrophie rétinienne et myopie). Des kystes cérébelleux, une dysplasie cérébelleuse et une hypoplasie du vermis cérébelleux observés à l'imagerie par résonance magnétique sont aussi caractéristiques de la maladie."},"de":{"name":"Ataxie-Intelligenzminderung-okulomotorische Apraxie-zerebelläre Zysten-Syndrom","synonyms":["Poretti-Boltshauser-Syndrom"],"definition":"Eine seltene neuro-ophthalmologische Erkrankung, die durch nicht-progressive Kleinhirnataxie, verzögerte motorische und sprachliche Entwicklung und Intelligenzminderung gekennzeichnet ist. Charakteristisch sind ophthalmologische Anomalien (z. B. okulomotorische Apraxie, Strabismus, Amblyopie, Netzhautdystrophie und Myopie) und weitere Manifestationen wie Kleinhirnzysten, zerebelläre Dysplasie und Vermishypoplasie, die in der Magnetresonanztomographie dargestellt werden können."},"es":{"name":"Síndrome de ataxia-discapacidad intelectual-apraxia oculomotora-quistes cerebelosos","synonyms":["Síndrome de Poretti-Boltshauser"],"definition":"Es una enfermedad neuro-oftalmológica poco frecuente caracterizada por ataxia cerebelosa no progresiva, retraso del desarrollo motor y del lenguaje y discapacidad intelectual, junto con anomalías oftalmológicas (p.ej., apraxia oculomotora, estrabismo, ambliopía, distrofia retiniana y miopía). Los quistes cerebelosos, la displasia cerebelosa y la hipoplasia del vermis cerebeloso observados en imágenes de resonancia magnética también son característicos de la enfermedad."},"it":{"name":"Sindrome atassia-disabilità intellettiva-aprassia oculomotoria-cisti cerebellari","synonyms":["Sindrome di Poretti-Boltshauser"],"definition":"La sindrome da atassia-disabilità intellettiva-aprassia oculomotoria-cisti cerebellari è una malattia neuro-oftalmica rara, caratterizzata da atassia cerebellare non progressiva, ritardo dello sviluppo motorio e del linguaggio, disabilità intellettiva e anomalie oculari (aprassia oculomotoria, strabismo, ambliopia, distrofia della retina e miopia). Altri segni clinici caratteristici, evidenti alla risonanza magnetica, sono le cisti cerebellari, la displasia cerebellare e l'ipoplasia del verme cerebellare."},"nl":{"name":"Ataxie - intellectuele achterstand - oculomotorische apraxie - cerebellaire cysten-syndroom","synonyms":["Syndroom van Poretti-Boltshauser"],"definition":"Een zeldzame neuro-oftalmologische ziekte, gekarakteriseerd door niet-progressieve cerebellaire ataxie, vertraagde motorische ontwikkeling en spraakontwikkeling, en intellectuele achterstand, met daarnaast oftalmologische afwijkingen (e.g. oculomotorische apraxie, strabisme, amblyopie, retinadystrofie en myopie). Cerebellaire cysten, cerebellaire dysplasie en hypoplasie van vermis, waargenomen na beeldvorming met magnetische resonantie, zijn ook kenmerkend voor de ziekte."},"pt":{"name":"Síndrome de ataxia-perturbação do desenvolvimento intelectual-apraxia oculomotora-quistos cerebelosos"},"pl":{"name":"Zespół ataksja-niepełnosprawność intelektualna-apraksja okoruchowa-torbiele móżdżku","synonyms":["Poretti-Boltshauser syndrome"]},"cs":{"name":"Syndrom zahrnující ataxii, mentální retardaci, okulomotorickou apraxii a mozečkové cysty","synonyms":["Poretti-Boltshauser syndrome"]},"uk":{"name":"Синдром атаксії-інтелектуальної недостатності-окуломоторної апраксії-кіст мозочка","synonyms":["Синдром Поретті-Больцгаузера"],"definition":"A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease."},"zh":{"name":"共济失调-智力障碍-动眼神经失用-小脑囊肿综合征","synonyms":["Poretti-Boltshauser综合征"],"definition":"本病是一种罕见的神经眼科疾病，除眼部异常(如动眼失用症、斜视、弱视、视网膜营养不良和近视)外，还表现为非进行性小脑性共济失调、运动和语言发育迟缓以及智力障碍。磁共振成像显示的小脑囊肿、小脑发育不良和小脑蚓部发育不良也是该病的特征。"},"tr":{"name":"Ataksi-zihinsel yetersizlik-okülomotor apraksi-serebellar kist sendromu","synonyms":["Poretti-Boltshauser sendromu"]}},"xrefs":[{"source":"OMIM","code":"615960","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014419","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4014821","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":730406,"name":"Genetic syndrome with a posterior fossa cystic malformation as a major feature","classifications":[156]},{"orpha":98688,"name":"Oculomotor apraxia","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]},{"orpha":729566,"name":"Syndrome with a posterior fossa cystic malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"LAMA1","name":"laminin subunit alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25105227[PMID]","hgnc":"6481","ensembl":"ENSG00000101680","omim":"150320","loci":["18p11.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"24013853[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":"2019-11-21","source":"26932191[PMID]_28283601[PMID]_25105227[PMID]_24013853[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002350","label":"Cerebellar cyst","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007033","label":"Cerebellar dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002198","label":"Dilated fourth ventricle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011933","label":"Elongated superior cerebellar peduncle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007068","label":"Inferior vermis hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001105","label":"Retinal atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002599","label":"Head titubation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very rare (<4-1%)","criteria":null}]}}