{"orpha":324569,"name":"Pontocerebellar hypoplasia type 8","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PCH8","Pontocerebellar hypoplasia due to CHMP1A mutation"],"definition":"Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the <i>CHMP1A</i> gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324569/","orphanet_url":"https://www.orpha.net/en/disease/detail/324569","names":{"fr":{"name":"Hypoplasie pontocérébelleuse type 8","synonyms":["HPC8","Hypoplasie pontocérébelleuse due à une mutation du gène CHMP1A"],"definition":"Nouvelle forme très rare d'hypoplasie pontocérébelleuse caractérisée sur le plan clinique par une microcéphalie progressive, des difficultés à s'alimenter, un retard de développement sévère, bien que la marche puisse être acquise, une hypotonie souvent associée à une augmentation du tonus musculaire des membres inférieurs et des réflexes tendineux profonds, des déformations articulaires des membres inférieurs et, occasionnellement, des crises épileptiques complexes. L'HPC8 est causée par une mutation avec perte de fonction du gène <i>CHMP1A</i>. L'IRM met en évidence une hypoplasie pontocérébelleuse touchant de manière égale le vermis et les hémisphères, ainsi qu'une réduction légère à sévère du volume de la substance blanche cérébrale et un corps calleux complètement formé mais très fin."},"de":{"name":"Pontozerebelläre Hypoplasie Typ 8","synonyms":["PCH8","Pontozerebelläre Hypoplasie durch CHMP1A-Genmutation"]},"es":{"name":"Hipoplasia pontocerebelosa tipo 8","synonyms":["HPC8","Hipoplasia pontocerebelosa por una mutación en el gen CHMP1A"],"definition":"La hipoplasia pontocerebelosa tipo 8 (PCH8) es una forma muy poco frecuente de hipoplasia pontocerebelosa caracterizada clínicamente por microencefalia progresiva, dificultades para alimentarse, retraso grave del desarrollo y, aunque se pueda lograr la deambulación, hipotonía a menudo asociada con aumento del tono muscular de las extremidades inferiores y reflejos tendinosos profundos, deformidades articulares de las extremidades inferiores y, en ocasiones, convulsiones complejas. La PCH8 está causada por una mutación de pérdida de función en el gen <i>CHMP1A</i>. La RM evidencia una hipoplasia pontocerebelosa con vermis y hemisferios igualmente afectados y una disminución del volumen de materia blanca cerebral de leve a grave con notable adelgazamiento de un cuerpo calloso completamente formado."},"it":{"name":"Ipoplasia pontocerebellare, tipo 8","synonyms":["Ipoplasia pontocerebellare da mutazione del gene CHMP1A","PCH8"]},"nl":{"name":"Pontocerebellaire hypoplasie type 8","synonyms":["PCH8","Pontocerebellaire hypoplasie als gevolg van CHMP1A-mutatie"],"definition":"Pontocerebellaire hypoplasie type 8 (PCH8) is een nieuwe, zeer zeldzame vorm van pontocerebellaire hypoplasie (zie deze term) die klinisch gekenmerkt wordt door progressieve micro-encefalie, voedingsproblemen, ernstige ontwikkelingsachterstand, hoewel lopen bereikt kan worden, hypotonie die vaak geassocieerd is met verhoogde spiertonus van de onderste ledematen en diepe peesreflexen, gewrichtsafwijkingen in de onderste ledematen, en occasioneel complexe insulten. PCH8 wordt veroorzaakt door een loss-of function mutatie in het <i>CHMP1A</i>-gen. MRI toont een pontocerebellaire hypoplasie aan met gelijke aantasting van de vermis en de hemisferen en een mild tot ernstig gereduceerd cerebrale witte stofvolume met een volledig gevormd, erg dun corpus callosum."},"pt":{"name":"Hipoplasia pontocerebelosa tipo 8"},"pl":{"name":"Hipoplazja mostowo-móżdżkowa typu 8","synonyms":["Hipoplazja mostowo-móżdżkowa z powodu mutacji CHMP1A","PCH8"]},"cs":{"name":"Pontocerebelární hypoplázie, typ 8","synonyms":["PCH8","Pontocerebelární hypoplázie způsobená CHMP1A mutací"]},"uk":{"name":"Гіпоплазія мозочка, тип 8","synonyms":["PCH8","Гіпоплазія мозочка внаслідок мутації CHMP1A"],"definition":"Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the <i>CHMP1A</i> gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum."},"zh":{"name":"脑桥小脑发育不全8型","synonyms":["CHMP1基因突变所致脑桥小脑发育不全"],"definition":"脑桥小脑发育不全8型(PCH8)是桥小脑发育不全(见该术语)的一种新发现的罕见类型，临床特征为进行性脑过小、喂养困难、严重发育迟缓，尽管患者可以步行，但张力减退通常与下肢肌张力增加和深部腱反射、下肢关节畸形以及偶发的复杂癫痫发作有关。PCH8是由CHMP1A基因功能缺失突变引起的。磁共振成像显示小脑桥脑发育不全，蚓部和半球受到同等影响，脑白质体积轻度至重度减少，胼胝体完全形成但非常薄。"},"tr":{"name":"Pontoserebellar hipoplazi tip 8","synonyms":["PCH8","CHMP1A mutasyonuna bağlı pontoserebellar hipoplazi"]}},"xrefs":[{"source":"OMIM","code":"614961","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013990","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3554209","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98523,"name":"Pontocerebellar hypoplasia","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"CHMP1A","name":"charged multivesicular body protein 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23023333[PMID]","hgnc":"8740","ensembl":"ENSG00000131165","omim":"164010","loci":["16q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"23023333[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}