{"orpha":369920,"name":"Pontocerebellar hypoplasia type 9","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PCH9"],"definition":"A rare, genetic, non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369920/","orphanet_url":"https://www.orpha.net/en/disease/detail/369920","names":{"fr":{"name":"Hypoplasie pontocérébelleuse type 9","synonyms":["PCH9"],"definition":"Sous-type génétique rare d'hypoplasie pontocérébelleuse non syndromique caractérisé par une atrophie progressive du cervelet et du tronc cérébral, une hypoplasie/aplasie du corps calleux et une microcéphalie post-natale progressive. Les patients présentent généralement un retard de développement global profond, une tétraparésie spastique, des crises convulsives, une cécité corticale. L'imagerie cérébrale met en évidence une morphologie cérébrale anormale, à savoir une hypoplasie pontocérébelleuse, un mésencéphale en forme du chiffre 8 et, de façon plus inconstante, des kystes interhémisphériques, une ventriculomégalie et une dysmyélinisation cérébrale."},"de":{"name":"Pontozerebelläre Hypoplasie Typ 9","synonyms":["PCH9"]},"es":{"name":"Hipoplasia pontocerebelosa tipo 9","synonyms":["HPC9"],"definition":"La hipoplasia pontocerebelosa tipo 9, es un subtipo, genético y poco frecuente, de hipoplasia pontocerebelosa no sindrómica caracterizada por atrofia progresiva cerebelosa y del tronco cerebral, hipo-/aplasia del cuerpo calloso y microcefalia postnatal progresiva. Los afectados suelen presentar un profundo retraso global del desarrollo, tetraparesia espástica, crisis, deficiencias visuales corticales y, en la neuroimagen, una morfología cerebral anómala que incluye hipoplasia pontocerebelosa, apariencia del mesencéfalo en \"forma de 8\", quistes interhemisféricos, ventriculomegalia y desmielinización cerebral."},"it":{"name":"Ipoplasia pontocerebellare, tipo 9","synonyms":["PCH9"],"definition":"L'ipoplasia pontocerebellare tipo 9 è un sottotipo genetico raro di ipoplasia ponto-cerebellare non sindromica, caratterizzato da atrofia progressiva del cervelletto e del tronco encefalico, ipoplasia/aplasia del corpo calloso e microcefalia postnatale progressiva. Di solito i pazienti presentano grave ritardo dello sviluppo globale, tetraparesi spastica, crisi epilettiche e compromissione corticale della vista. Le neuroimmagini evidenziano anomalie morfologiche del cervello, con ipoplasia ponto-cerebellare, aspetto a forma di 8 del mesencefalo e, in forma maggiormente incostante, cisti interemisferiche, ventricolomegalia e demielinizzazione cerebrale."},"nl":{"name":"Pontocerebellaire hypoplasie type 9","synonyms":["PCH9"],"definition":"Pontocerebellaire hypoplasie type 9 is een zeldzaam, genetisch subtype van niet-syndromale pontocerebellaire hypoplasie dat gekarakteriseerd wordt door progressieve atrofie van het cerebellum en de hersenstam, hypo-/aplasie van het corpus callosum en progressieve postnatale microcefalie. Doorgaans presenteren patiënten zich met vergaande algehele ontwikkelingsachterstand, spastische tetraparese, insulten, en corticale visuele stoornis, en neurologische beeldvorming toont abnormale morfologie van de hersenen met onder meer pontocerebellaire hypoplasie, middenhersenen met een \"cijfer 8\"-achtig uiterlijk, en, meer variabel, interhemisferische cysten, ventriculomegalie en cerebrale dysmyelinisatie."},"pt":{"name":"Hipoplasia pontocerebelosa tipo 9"},"pl":{"name":"Hipoplazja mostowo-móżdżkowa typu 9","synonyms":["PCH9"],"definition":"*Hipoplazja mostowo-móżdżkowa typu 9 jest rzadkim, genetycznie uwarunkowanym, izolowanym podtypem hipoplazji mostowo-móżdżkowej. Charakteryzuje się postępującą atrofią móżdżku i pnia mózgu, hipo-/aplazją ciała modzelowatego i postępującym małogłowiem pourodzeniowym. Zazwyczaj obserwuje się głębokie całościowe opóźnienie rozwoju, czterokończynowe porażenie spastyczne, napady padaczkowe, zaburzenia widzenia pochodzenia korowego, a w badaniach neuroobrazowych widoczna jest nieprawidłowa morfologia mózgu, w tym hipoplazja móżdżku, śródmózgowie przypominające kształtem cyfrę 8 oraz zmiennie występujące torbiele międzypółkulowe, powiększenie komór mózgowych i zaburzenia mielinizacji mózgu."},"cs":{"name":"Pontocerebelární hypoplázie, typ 9","synonyms":["PCH9"]},"uk":{"name":"Понтоцеребеллярна гіпоплазія, тип 9","synonyms":["PCH9"],"definition":"A rare, genetic, non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination."},"zh":{"name":"桥脑小脑发育不全9型","synonyms":["PCH9"],"definition":"脑桥小脑发育不全症9型是一种罕见的遗传性非综合征性小脑桥发育不全的亚型，其特征是进行性小脑和脑干萎缩，胼胝体发育不全和进行性产后小头畸形。患者通常表现出极重度的全面发育延迟、痉挛性四肢轻瘫、癫痫发作、皮质视觉障碍以及在神经影像学上异常的脑形态，包括脑桥小脑发育不全，“ 8”字形中脑外观，以及不同程度的半球间囊肿，脑室增大和大脑髓鞘发育异常。"},"tr":{"name":"Pontoserebellar hipoplazi tip 9","synonyms":["PCH9"]}},"xrefs":[{"source":"OMIM","code":"615809","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014351","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4014354","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":"AMPD2","name":"adenosine monophosphate deaminase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23911318[PMID]","hgnc":"469","ensembl":"ENSG00000116337","omim":"102771","loci":["1p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"28815207[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28815207[PMID]"}],"phenotypes":null}