{"orpha":2940,"name":"Porencephaly","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2940/","orphanet_url":"https://www.orpha.net/en/disease/detail/2940","names":{"fr":{"name":"Porencéphalie","definition":"Malformation cérébrale rare, génétique ou acquise, caractérisée par un kyste ou une cavité intracérébrale remplie de liquide avec ou sans communication entre le ventricule et l'espace sous-arachnoïdien. En fonction de la localisation et de la gravité, les signes cliniques peuvent inclure une hémiparésie, des crises convulsives, une déficience intellectuelle et une dystonie."},"de":{"name":"Porenzephalie","definition":"Eine seltene, genetisch bedingte oder erworbene zerebrale Fehlbildung, die durch eine mit Flüssigkeit gefüllte intrazerebrale Zyste oder Höhle mit oder ohne Verbindung zwischen Ventrikel und Subarachnoidalraum gekennzeichnet ist. Die klinischen Manifestationen hängen von der Lokalisation und dem Schweregrad ab und können Hemiparese, Krampfanfälle, intellektuelle Entwicklungsstörungen und Dystonie umfassen."},"es":{"name":"Porencefalia","definition":"Es una malformación cerebral poco frecuente, genética o adquirida, caracterizada por un quiste o cavidad llena de líquido intracerebral con o sin comunicación entre el ventrículo y el espacio subaracnoideo. Las manifestaciones clínicas dependen de la ubicación y la gravedad y pueden incluir hemiparesia, convulsiones, discapacidad intelectual y distonía."},"it":{"name":"Porencefalia","definition":"Si tratta di una malformazione cerebrale rara, genetica o acquisita, caratterizzata dalla presenza di una cisti o di una cavità intracerebrale contenente liquido, con o senza comunicazione tra il ventricolo e gli spazi subaracnoidei. I segni clinici dipendono dalla localizzazione e dalla gravità, e comprendono l'emiparesi, le crisi epilettiche, la disabilità intellettiva e la distonia."},"nl":{"name":"Porencefalie","definition":"Een zeldzame, genetische of verworven malformatie van de hersenen, gekarakteriseerd door een intracerebrale, met vocht gevulde cyste of holte, met of zonder communicatie tussen het ventrikel en de subarachnoïdale ruimte. Klinische manifestaties hangen af van de locatie en ernst, en omvatten mogelijk hemiparese, insulten, intellectuele achterstand, en dystonie."},"pt":{"name":"Porencefalia familiar"},"pl":{"name":"Porencefalia"},"cs":{"name":"Porencefalie"},"uk":{"name":"Поренцефалія","definition":"A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia."},"zh":{"name":"脑穿通畸形"},"tr":{"name":"Porensefali"}},"xrefs":[{"source":"OMIM","code":"175780","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614483","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.6","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LA05.60","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"137059367"},{"source":"MONDO","code":"0017410","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D065708","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0302892","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7430","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036172","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166478,"name":"Cerebral malformation with epilepsy","classifications":[156,181]},{"orpha":269190,"name":"Encephaloclastic disorder","classifications":[147,156,181]}],"children":[{"orpha":314697,"name":"Acquired porencephaly","type":"Etiological subtype"},{"orpha":99810,"name":"Familial porencephaly","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"COL4A1","name":"collagen type IV alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2202","ensembl":"ENSG00000187498","omim":"120130","loci":["13q34"],"via":{"orpha":99810,"name":"Familial porencephaly"}},{"symbol":"COL4A2","name":"collagen type IV alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2203","ensembl":"ENSG00000134871","omim":"120090","loci":["13q34"],"via":{"orpha":99810,"name":"Familial porencephaly"}},{"symbol":"COLGALT1","name":"collagen beta(1-O)galactosyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30412317[PMID]_33709034[PMID]","hgnc":"26182","ensembl":"ENSG00000130309","omim":"617531","loci":["19p13.11"],"via":{"orpha":99810,"name":"Familial porencephaly"}}],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.2,"area":"Japan","status":"Validated","source":"26545857[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"United States","status":"Validated","source":"18383510[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002132","label":"Porencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null}]}}