{"orpha":306547,"name":"Porencephaly-microcephaly-bilateral congenital cataract syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306547/","orphanet_url":"https://www.orpha.net/en/disease/detail/306547","names":{"fr":{"name":"Syndrome de porencéphalie-microcéphalie-cataracte bilatérale congénitale","definition":"Syndrome rare de malformation du système nerveux central d'origine génétique, caractérisé par des cataractes congénitales bilatérales et une destruction hémorragique sévère du parenchyme cérébral avec dégénérescence kystique massive associée, une hypertrophie des ventricules et une calcification sous-épendymaire. Les patients présentent généralement une spasticité généralisée, une augmentation des réflexes tendineux profonds et des crises convulsives. Une hépatomégalie et des anomalies rénales ont également été rapportées."},"de":{"name":"Porenzephalie-Mikrozephalie-bilaterale kongenitale Katarakte-Syndrom"},"es":{"name":"Síndrome de porencefalia-microcefalia-catarata congénita bilateral","definition":"Síndrome de porencefalia-microcefalia-catarata congénita bilateral es un síndrome de malformación del sistema nervioso central, genético y poco frecuente, caracterizado por cataratas congénitas bilaterales y destrucción hemorrágica grave del parénquima cerebral que lleva asociada una degeneración quística masiva, aumento del tamaño ventricular y calcificación subependimaria. Los pacientes suelen presentar espasticidad generalizada, hiperreflexia osteotendinosa y crisis comiciales. También se han descrito hepatomegalia y anomalías renales."},"it":{"name":"Sindrome porencefalia, microcefalia, cataratta bilaterale congenita","definition":"La sindrome che associa la porencefalia, la microcefalia e la cataratta bilaterale congenita è una malformazione genetica rara del sistema nervoso centrale, caratterizzata da cataratta bilaterale congenita e grave distruzione emorragica del parenchima cerebrale, associata ad una marcata degenerazione cistica, alla dilatazione dei ventricoli e alla calcificazione subependimale. Di solito i pazienti presentano spasticità generalizzata, un aumento dei riflessi tendinei profondi e crisi epilettiche. Altri segni clinici possibili sono l'epatomegalia e le anomalie renali."},"nl":{"name":"Porencefalie - microcefalie - bilateraal congenitaal cataract-syndroom","definition":"Porencefalie - microcefalie - bilateraal congenitaal cataract-syndroom is een zeldzaam, genetisch syndroom met malformatie van het centrale zenuwstelsel, en wordt gekarakteriseerd door bilaterale congenitale cataracten en ernstige hemorragische afbraak van het hersenparenchym met geassocieerde massale cystische degeneratie, vergrote ventrikels en subependymale calcificatie. Doorgaans presenteren patiënten zich met gegeneraliseerde spasticiteit, verhoogde diepe peesreflexen en insulten. Hepatomegalie en nieranomalieën werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de porencefalia-microcefalia-catarata bilateral congénita"},"pl":{"name":"Zespół porencefalia-mikrocefalia-obustronna zaćma wrodzona"},"cs":{"name":"Syndrom zahrnující porencefalii, mikrocefalii a bilaterální vrozenou kataraktu"},"uk":{"name":"Синдром поренцефалії-мікроцефалії-двосторонньої вродженої катаракти","definition":"A rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported."},"zh":{"name":"脑出血性破坏伴室管膜下钙化、白内障","definition":"脑穿通畸形-小头畸形-双侧先天性白内障综合征是一种罕见的遗传性中枢神经系统畸形综合征，以双侧先天性白内障和脑实质严重出血性破坏伴有大量囊性变、脑室扩大和室管膜下钙化。患者常表现为全身性痉挛，腱反射亢进加和惊厥发作。肝脏肿大和肾脏异常也有报道。"},"tr":{"name":"Porensefali-mikrosefali-bilateral Doğumsal katarakt sendromu"}},"xrefs":[{"source":"OMIM","code":"613730","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q07.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013394","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751076","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"JAM3","name":"junctional adhesion molecule 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21109224[PMID]","hgnc":"15532","ensembl":"ENSG00000166086","omim":"606871","loci":["11q25"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"21109224[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}