{"orpha":95232,"name":"Lissencephaly due to LIS1 mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PAFAH1B1-related lissencephaly"],"definition":"Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95232/","orphanet_url":"https://www.orpha.net/en/disease/detail/95232","names":{"fr":{"name":"Lissencéphalie par mutation de LIS1","synonyms":["Lissencephélie associée à PAFAH1B1"],"definition":"Malformation cérébrale associée à une épilepsie caractérisée principalement par une lissencéphalie isolée postérieure accompagnée d'un retard de développement, d'une déficience intellectuelle et d'une épilepsie qui évolue généralement du syndrome de West vers le syndrome de Lennox-Gastaut. Les autres caractéristiques sont une hypotonie musculaire, une microcéphalie acquise, un retard de croissance et un mauvais contrôle des voies respiratoires entraînant une pneumonie d'aspiration."},"de":{"name":"Lissenzephalie durch LIS1-Genmutation","synonyms":["PAFAH1B1-assoziierte Lissenzephalie"]},"es":{"name":"Lisencefalia por una mutación en el gen LIS1","synonyms":["Lisencefalia asociada a PAFAH1B1"],"definition":"Es una malformación cerebral con epilepsia caracterizada predominantemente por lisencefalia aislada posterior con retraso del desarrollo, discapacidad intelectual y epilepsia que por lo general evoluciona del síndrome de West al síndrome de Lennox-Gastaut. Otras características adicionales incluyen hipotonía muscular, microcefalia adquirida, retraso del desarrollo y mal control de las vía aerea que conduce a neumonía por aspiración."},"it":{"name":"Lissencefalia da mutazione di LIS1","synonyms":["Lissencefalia PAFAH1B1-correlata"],"definition":"La lissencefalia da mutazione di LIS1 è una malformazione cerebrale con epilessia, caratterizzata per lo più da lissencefalia posteriore isolata associata a ritardo dello sviluppo, disabilità intellettiva ed epilessia, che di solito evolve nella sindrome di West e nella sindrome di Lennox-Gastaut. Altri segni clinici sono l'ipotonia muscolare, la microcefalia acquisita, il ritardo della crescita e lo scarso controllo delle vie aeree, che esita nella polmonite da aspirazione."},"nl":{"name":"Lissencefalie door LIS1-mutatie","synonyms":["PAFAH1B1-gerelateerde lissencefalie"],"definition":"Lissencefalie door LIS1-mutatie is een cerebrale malformatie met epilepsie die voornamelijk gekarakteriseerd wordt door posterieur geïsoleerde lissencefalie met ontwikkelingsachterstand, intellectuele achterstand en epilepsie die meestal evolueert uit syndroom van West tot syndroom van Lennox-Gastaut. Bijkomende kenmerken zijn onder meer musculaire hypotonie, verworven microcefalie, groeiachterstand en ondermaatse controle van luchtwegen met aspiratiepneumonie tot gevolg."},"pt":{"name":"Lisencefalia por mutação no gene LIS1"},"pl":{"name":"Lizencefalia spowodowana mutacją LIS1","synonyms":["Lizencefalia związana z PAFAH1B1"],"definition":"*Lizencefalia spowodowana mutacją LIS1 jest wadą mózgowia z padaczką, która charakteryzuje się głównie izolowaną tylną lizencefalią z opóźnieniem rozwoju, niepełnosprawnością intelektualną i padaczką, ewoluującą zwykle od zespołu Westa w zespół Lennoxa i Gastauta. Dodatkowe cechy obejmują hipotonię mięśniową, nabyte małogłowie, zaburzenia prawidłowego rozwoju i słabą kontrolę funkcji dróg oddechowych, co prowadzi do zachłystowego zapalenia płuc."},"cs":{"name":"Lissencefalie způsobená mutací LIS1","synonyms":["PAFAH1B1-vázaná lissencefalie"]},"uk":{"name":"Лісенцефалія внаслідок мутації LIS1","synonyms":["Лісенцефалія, повязана з PAFAH1B1"],"definition":"Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia."},"zh":{"name":"LIS1突变所致无脑回畸形","synonyms":["PAFAH1B1相关性无脑回畸形"],"definition":"LIS1基因突变所致的无脑回畸形是一种伴癫痫的脑畸形，其主要特征是后部孤立性无脑回畸形伴发育迟缓、智力障碍和癫痫，癫痫通常由West综合征演变为Lennox-Gastaut综合征。其他特征包括肌张力减退、获得性小头畸形、发育不良和呼吸道控制不良导致吸入性肺炎。"},"tr":{"name":"LIS1 mutasyonuna bağlı lizensefali","synonyms":["PAFAH1B1-ilişkili lizensefali"]}},"xrefs":[{"source":"OMIM","code":"607432","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"225516542"},{"source":"MONDO","code":"0011830","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749301","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":102009,"name":"Classic lissencephaly","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"PAFAH1B1","name":"platelet activating factor acetylhydrolase 1b regulatory subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18285425[PMID]","hgnc":"8574","ensembl":"ENSG00000007168","omim":"601545","loci":["17p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":63.0,"area":"Worldwide","status":"Validated","source":"19667223[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"19667223[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-23","source":"28440899[PMID]_19667223[PMID]_20301752[PMID]","terms":[{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006891","label":"Thick cerebral cortex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031882","label":"Agyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020191","label":"Anterior predominant thick cortex pachygyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002389","label":"Cavum septum pellucidum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025336","label":"Delayed ability to sit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012520","label":"Dilation of Virchow-Robin spaces","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032398","label":"Dysgyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010850","label":"EEG with spike-wave complexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007772","label":"Impaired smooth pursuit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007270","label":"Atypical absence seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011201","label":"EEG with changes in voltage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011153","label":"Focal motor seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002179","label":"Opisthotonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020189","label":"Posterior predominant thick cortex pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002478","label":"Progressive spastic quadriplegia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very rare (<4-1%)","criteria":null}]}}