{"orpha":166073,"name":"Pontocerebellar hypoplasia type 6","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Fatal infantile encephalopathy with mitochondrial respiratory chain defects","PCH6"],"definition":"A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166073/","orphanet_url":"https://www.orpha.net/en/disease/detail/166073","names":{"fr":{"name":"Hypoplasie pontocérébelleuse type 6","synonyms":["Encéphalopathie fatale infantile avec anomalie de la chaîne respiratoire mitochondriale","HPC6","PCH6"],"definition":"Forme génétique rare d'hypoplasie pontocérébelleuse (HPC) caractérisée par une atrophie cérébrale corticale sévère et une atrophie néocorticale associées à une hypoplasie pontocérébelleuse avec atteinte du pont de Varole et du cervelet. À la naissance, les signes cliniques de la maladie sont une hypotonie, un clonus, une épilepsie, des troubles de la déglutition. S'ensuivent une microcéphalie progressive, une spasticité et une acidose lactique dès la petite enfance."},"de":{"name":"Pontozerebelläre Hypoplasie Typ 6","synonyms":["Fatale infantile Enzephalopathie mit mitochondrialen Atmungskettendefekten","PCH6"],"definition":"Eine genetisch bedingte Form der pontozerebellären Hypoplasie (PCH), die durch eine neokortikale und schwere zerebrale Kortikalatrophie in Verbindung mit einer pontozerebellären Hypoplasie gekennzeichnet ist, wobei Pons und Kleinhirn gleichermaßen betroffen sind. Klinisch manifestiert sich die Störung bei der Geburt mit Hypotonie, Klonus, Epilepsie und Schluckstörungen und ab dem Säuglingsalter mit fortschreitender Mikrozephalie, Spastik und Laktatazidose."},"es":{"name":"Hipoplasia pontocerebelosa tipo 6","synonyms":["Encefalopatía letal del lactante con defectos en la cadena respiratoria mitocondrial","HPC6"],"definition":"Es una forma poco frecuente de hipoplasia pontocerebelosa (HPC) de origen genético caracterizada por atrofia cerebral cortical y neocortical grave asociada a hipoplasia pontocerebelosa con afectación del tronco cerebral y del cerebelo por igual. Clínicamente, el trastorno se manifiesta al nacimiento con hipotonía, clonus, epilepsia y trastornos de la deglución, y desde la lactancia con microcefalia progresiva, espasticidad y acidosis láctica."},"it":{"name":"Ipoplasia pontocerebellare, tipo 6","synonyms":["Encefalopatia infantile fatale con difetti della catena respiratoria mitocondriale","PCH6"],"definition":"L'ipoplasia pontocerebellare tipo 6 (PCH6) è una forma genetica rara di ipoplasia pontocerebellare (PCH), caratterizzata da atrofia cerebrale neocorticale e corticale grave, associata ad ipoplasia pontocerebellare con interessamento del ponte e del cervelletto. Dal punto di vista clinico, la malattia si manifesta alla nascita con ipotonia, clonie, epilessia e anomalie della deglutizione e, nella prima infanzia, con microcefalia progressiva, spasticità e acidosi lattica."},"nl":{"name":"Pontocerebellaire hypoplasie type 6","synonyms":["Fatale infantiele encefalopathie met mitochondriale ademhalingsketendefecten","PCH6"],"definition":"Een zeldzame, genetische vorm van pontocerebellaire hypoplasie (PCH), gekarakteriseerd door neocorticale en ernstige cerebrale corticale atrofie, geassocieerd met pontocerebellaire hypoplasie die pons en cerebellum in gelijke mate aantast. Klinisch manifesteert de aandoening zich bij de geboorte met hypotonie, clonus, epilepsie, en probleem met slikken, en vanaf de zuigelingentijd met progressieve microcefalie, spasticiteit, en lactaatacidose."},"pt":{"name":"Hipoplasia pontocerebelosa tipo 6","synonyms":["Encefalopatia infantil fatal com defeitos na cadeia respiratória mitocondrial"]},"pl":{"name":"Hipoplazja mostowo-móżdżkowa typu 6","synonyms":["PCH6","Śmiertelna niemowlęca encefalopatia z defektami mitochondrialnego łańcucha oddechowego"]},"cs":{"name":"Pontocerebelární hypoplázie, typ 6","synonyms":["PCH6","Fatální infantilní encefalopatie s mitochondriálními poruchami dýchacího řetězce"]},"uk":{"name":"Понтоцеребеллярна гіпоплазія тип 6","synonyms":["Летальна дитяча енцефалопатія з дефектами мітохондріального дихального ланцюга","PCH6"],"definition":"A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis."},"zh":{"name":"桥脑小脑发育不全6型","synonyms":["致命性婴儿脑病伴线粒体呼吸链缺陷"],"definition":"脑桥小脑发育不全6型(PCH6)是脑桥小脑发育不全(见该词条)的一种罕见类型，其临床特征是出生时出现肌张力低下、阵挛、癫痫、吞咽障碍，且从婴儿期开始出现进行性脑过小、痉挛和乳酸酸中毒。"},"tr":{"name":"Pontoserebellar hipoplazi tip 6","synonyms":["PCH6","Mitokondriyal solunum zinciri kusurları ile seyreden letal infantil ensefalopati"]}},"xrefs":[{"source":"OMIM","code":"611523","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1612653027"},{"source":"MONDO","code":"0012683","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C548074","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1969084","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10710","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":98523,"name":"Pontocerebellar hypoplasia","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"RARS2","name":"arginyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"21406","ensembl":"ENSG00000146282","omim":"611524","loci":["6q15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"25809939[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25809939[PMID]"}],"phenotypes":null}