{"orpha":467166,"name":"Tubulinopathy-associated dysgyria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome"],"definition":"A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioral problems.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-467166/","orphanet_url":"https://www.orpha.net/en/disease/detail/467166","names":{"fr":{"name":"Dysgyrie associée à une tubulinopathie","synonyms":["Syndrome d'asymétrie du tronc cérébral-dysplasie cérébelleuse supérieure et des ganglions de la base","Syndrome d'asymétrie du tronc cérébral-dysplasie cérébelleuse supérieure et des noyaux gris centraux"],"definition":"Malformation rare du système nerveux central d'origine génétique caractérisée par une dysplasie du pédoncule cérébelleux supérieur (en particulier du vermis), une asymétrie du tronc cérébral, une dysplasie des ganglions de la base et des irrégularités corticales associées à des asymétries dues à des amplitudes et orientations anormales des gyri, ainsi qu'une profondeur sulculaire variable, en l'absence de lissencéphalie, de pachygyrie ou de polymicrogyrie. Sur le plan clinique, les patients présentent un retard de développement global, le développement moteur étant généralement plus affecté que celui du langage. Une apraxie oculomotrice, un strabisme, des crises d'épilepsie et des troubles du comportement figurent parmi les caractéristiques inconstantes."},"de":{"name":"Tubulinopathie-assoziierte Dysgyrie","synonyms":["Hirnstamm-Asymmetrie-superiore zerebelläre und basale Gangliendysplasie-Syndrom"],"definition":"Eine genetisch bedingte Fehlbildung des Zentralnervensystems, die durch eine Fehlbildung des oberen Kleinhirns (insbesondere des Vermis), eine Asymmetrie des Hirnstamms, eine Dysplasie der Basalganglien und kortikale Unregelmäßigkeiten mit asymmetrischen Anomalien der Gyralgröße und -orientierung sowie unterschiedlicher Sulkustiefe gekennzeichnet ist (jedoch ohne Lissenzephalie, Pachygyrie oder Polymikrogyrie). Klinisch zeigen die Patienten eine globale Entwicklungsverzögerung, wobei die motorische Entwicklung in der Regel stärker betroffen ist als die sprachliche Entwicklung. Zu den variablen Merkmalen gehören abnorme Augenbewegungen einschließlich okulomotorischer Apraxie, Schielen, Krampfanfälle und Verhaltensauffälligkeiten."},"es":{"name":"Disgiria asociada a una tubulinopatía","synonyms":["Síndrome de asimetría del tronco encefálico-displasia cerebelosa superior y de los ganglios basales"],"definition":"Es una malformación del sistema nervioso central de base genética y poco frecuente caracterizada por displasia cerebelosa superior (especialmente del vermis), asimetría del tronco encefálico, displasia de los ganglios basales e irregularidades corticales con anomalías asimétricas relativas al tamaño y la orientación de las circunvoluciones cerebrales, así como variabilidad en la profundidad del surco, aunque sin lisencefalia, paquigiria ni polimicrogiria. Clínicamente, los pacientes presentan retraso global del desarrollo, y el desarrollo motor suele estar más afectado que el habla. Otras características variables son movimientos oculares anómalos, como apraxia oculomotora, estrabismo, crisis epilépticas y trastornos de conducta."},"it":{"name":"Disgiria associata a tubulinopatia","definition":"Si tratta di una malformazione genetica rara del sistema nervoso centrale, caratterizzata da displasia del cervelletto superiore (in particolare del verme), asimmetria del tronco encefalico, displasia dei gangli basali e irregolarità corticali con anomalie asimmetriche delle dimensioni e dell'orientamento delle circonvoluzioni e profondità variabile dei solchi, in assenza di lissencefalia, pachigiria o polimicrogiria. Dal punto di vista clinico, i pazienti presentano ritardo dello sviluppo globale, di solito con un maggiore interessamento dello sviluppo motorio rispetto a quello del linguaggio. Altri sintomi variabili sono le anomalie dei movimenti oculari (aprassia oculomotoria, strabismo), le crisi epilettiche e i problemi comportamentali."},"nl":{"name":"Tubulinopathie-geassocieerde dysgyrie","synonyms":["Asymmetrie van de hersenstam - dysplasie van het superieur cerebellum en de basale ganglia-syndroom"],"definition":"Een zeldzame, genetische malformatie van centraal zenuwstelsel, gekarakteriseerd door dysplasie van het bovenste deel van het cerebellum (vooral de vermis), asymmetrie van de hersenstam, dysplasie van basale ganglia, en onregelmatigheden van de cortex met asymmetrische afwijkingen van grootte en oriëntatie van gyri, alsook variërende diepte van sulci, maar zonder lissencefalie, pachygyrie, of polymicrogyrie. Klinisch vertonen patiënten algehele ontwikkelingsachterstand, waarbij de motorische ontwikkeling meestal meer aangetast wordt dan de spraak. Variabele kenmerken zijn abnormale oogbewegingen waaronder oculomotorische apraxie, strabisme, insulten, en gedragsproblemen."},"pt":{"name":"Disgiria associada a tubulinopatia"},"pl":{"name":"Nieprawidłowe zakręty mózgu związane z tubulinopatią (Dysgyria związana z tubulinopatią)","synonyms":["Zespół asymetrii pnia mózgu, dysplazji konarów górnych móżdżku i zwojów podstawnych"]},"cs":{"name":"Dysgyrie asociovaná s tubulunopatií","synonyms":["Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome","Syndrom zahrnující asymetrii mozkového kmene, dysplázii předního mozečku a bazálních ganglií"]},"uk":{"name":"Дисгірія, асоційована з тубулінопатією","synonyms":["Синдром асиметрії стовбура мозку - дисплазії верхніх мозочкових і базальних гангліїв"],"definition":"A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioral problems."},"zh":{"name":"肾小管病相关记忆障碍","synonyms":["脑干不对称-小脑上部和基底神经节发育不良综合征"]},"tr":{"name":"Tübülinopati-ilişkili disji","synonyms":["Beyin sapı asimetrisi-süperior serebellar ve bazal gangliya displazisi sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018763","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568850","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"TUBA1A","name":"tubulin alpha 1a","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26130693[PMID]","hgnc":"20766","ensembl":"ENSG00000167552","omim":"602529","loci":["12q13.12"]},{"symbol":"TUBB2B","name":"tubulin beta 2B class IIb","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26130693[PMID]","hgnc":"30829","ensembl":"ENSG00000137285","omim":"612850","loci":["6p25.2"]},{"symbol":"TUBB3","name":"tubulin beta 3 class III","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26130693[PMID]","hgnc":"20772","ensembl":"ENSG00000258947","omim":"602661","loci":["16q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"26130693[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26130693[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-09-15","source":"26130693[PMID]_26564436[PMID]_34869359[PMID]_26564436[PMID]","terms":[{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010663","label":"Abnormality of thalamus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012502","label":"Abnormality of the internal capsule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032398","label":"Dysgyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012547","label":"Abnormal involuntary eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040327","label":"Abnormal morphology of the olfactory bulb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031882","label":"Agyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020214","label":"Startle-induced seizure","frequency":"Occasional (29-5%)","criteria":null}]}}