{"orpha":329217,"name":"Cerebral sinovenous thrombosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CSVT"],"definition":"A rare, potentially life-threatening, circulatory system disease characterized by variable signs and symptoms which may include headache, seizures, altered mental status, intracranial hypertension and cavernous sinus syndrome, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329217/","orphanet_url":"https://www.orpha.net/en/disease/detail/329217","names":{"fr":{"name":"Thrombose veineuse cérébrale","synonyms":["CSVT","Thrombose des veines et sinus cérébraux","Thrombose sino-veineuse cérébrale"],"definition":"Maladie rare du système circulatoire, potentiellement létale, caractérisée par des signes et des symptômes variables pouvant inclure, entre autres, des céphalées, des convulsions, une altération de l'état mental, une hypertension intracrânienne et un syndrome du sinus caverneux."},"de":{"name":"Zerebrale Sinus- und Venenthrombose","synonyms":["CSVT","Zerebrale Sinusvenenthrombose"],"definition":"Eine seltene, potenziell lebensbedrohliche Erkrankung des Kreislaufsystems, die durch variable Anzeichen und Symptome gekennzeichnet ist, die u. a. Kopfschmerzen, Krampfanfälle, veränderten mentalen Status, intrakranielle Hypertonie und kavernöses Sinussyndrom umfassen können."},"es":{"name":"Trombosis de los senos venosos cerebrales","synonyms":["CSVT"],"definition":"Es una enfermedad poco frecuente y potencialmente mortal del sistema circulatorio caracterizada por signos y síntomas variables que pueden incluir cefalea, crisis epilépticas, alteración del estado mental, hipertensión intracraneal y síndrome del seno cavernoso, entre otros."},"it":{"name":"Trombosi dei seni e delle vene cerebrali","synonyms":["CSVT"],"definition":"Si tratta di una malattia rara e potenzialmente letale dell'apparato circolatorio, caratterizzata da segni clinici variabili, che comprendono la cefalea, le crisi epilettiche, le alterazioni dello stato mentale, l'ipertensione intracranica e la sindrome del seno cavernoso."},"nl":{"name":"Cerebrale sinoveneuze trombose","synonyms":["CSVT"],"definition":"Een zeldzame, potentieel levensbedreigende ziekte van het circulatiesysteem gekarakteriseerd door variabele tekenen en symptomen zoals onder meer hoofdpijn, insulten, gewijzigde mentale status, intracraniale hypertensie en sinus-cavernosussyndroom."},"pt":{"name":"Trombose cerebral sinovenosa"},"pl":{"name":"Zakrzepica zatok i żył mózgu","synonyms":["CSVT"]},"cs":{"name":"Cerebrální venózní trombóza","synonyms":["CSVT"]},"uk":{"name":"Церебральний синовіальний тромбоз","synonyms":["CSVT"],"definition":"A rare, potentially life-threatening, circulatory system disease characterized by variable signs and symptoms which may include headache, seizures, altered mental status, intracranial hypertension and cavernous sinus syndrome, among others."},"zh":{"name":"脑静脉窦血栓形成","synonyms":["CSVT"],"definition":"一种罕见的、可能危及生命的循环系统疾病，其特征是多种体征和症状，包括头痛、癫痫、精神状态改变、颅内高压和海绵窦综合征等。"},"tr":{"name":"Serebral sinovenöz tromboz","synonyms":["CSVT"]}},"xrefs":[{"source":"ICD-10","code":"G08","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-10","code":"I67.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B22.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1655658429"},{"source":"MONDO","code":"0017993","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0338573","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083037","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98028,"name":"Rare circulatory system disease"},"parents":[{"orpha":71281,"name":"Rare central nervous system and retinal vascular disease","classifications":[181]}],"children":[],"genes":[{"symbol":"PROZ","name":"protein Z, vitamin K dependent plasma glycoprotein","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"21350198[PMID]_18677630[PMID]_20416992[PMID]","hgnc":"9460","ensembl":"ENSG00000126231","omim":"176895","loci":["13q34"]},{"symbol":"F2","name":"coagulation factor II, thrombin","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23073861[PMID]_22645618[PMID]_21350198[PMID]_16175009[PMID]_23927452[PMID]_22716977[PMID]","hgnc":"3535","ensembl":"ENSG00000180210","omim":"176930","loci":["11p11.2"]},{"symbol":"F5","name":"coagulation factor V","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23073861[PMID]_22721898[PMID]_21350198[PMID]_10519989[PMID]","hgnc":"3542","ensembl":"ENSG00000198734","omim":"612309","loci":["1q24.2"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"15858188[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}