{"orpha":465,"name":"Congenital plasminogen activator inhibitor type 1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital PAI-1 deficiency"],"definition":"A rare hemorrhagic disorder due to a constitutional haemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-465/","orphanet_url":"https://www.orpha.net/en/disease/detail/465","names":{"fr":{"name":"Déficit congénital en inhibiteur 1 de l'activateur du plasminogène","synonyms":["Déficit congénital en PAI-1"],"definition":"Maladie hémorragique rare due à un déficit constitutionnel en facteurs hémostatiques, caractérisé par une lyse prématurée des caillots hémostatiques et une tendance hémorragique modérée."},"de":{"name":"Plasminogenaktivator-Inhibitor Typ 1-Mangel, kongenitaler","synonyms":["PAI-1-Mangel, kongenitaler"],"definition":"Eine seltene hämorrhagische Erkrankung, die auf einem konstitutionellen Defekt der hämostatischen Faktoren beruht und durch eine vorzeitige Lyse von Blutgerinnseln und eine mäßige Blutungsneigung gekennzeichnet ist."},"es":{"name":"Deficiencia congénita del inhibidor del activador del plasminógeno tipo 1","definition":"Es un trastorno hemorrágico poco frecuente caracterizado por la lisis prematura de los coágulos hemostáticos y una tendencia moderada al sangrado."},"it":{"name":"Deficit congenito dell'inibitore dell'attivatore del plasminogeno tipo 1","synonyms":["Deficit congenito di PAI-1"],"definition":"Il deficit congenito dell'inibitore dell'attivatore del plasminogeno tipo 1 (PAI-1) è una malattia emorragica rara, causata da un difetto costituzionale dei fattori emostatici; è caratterizzata da una lisi prematura dei coaguli ematici e da una moderata predisposizione alle emorragie."},"nl":{"name":"Congenitale deficiëntie van plasminogeenactivator-inhibitor type 1","synonyms":["Congenitale PAI-1-deficiëntie"],"definition":"Een zeldzame bloedingsstoornis als gevolg van een constitutioneel defect van hemostatische factoren, gekarakteriseerd door vroegtijdige lyse van hemostatische stolsels en een matige bloedingsneiging."},"pt":{"name":"Deficiência de inibidor 1 do ativador do plasminogénio congénita"},"pl":{"name":"Wrodzony Niedobór inhibitora aktywacji plazminogenu typu 1","synonyms":["Wrodzony Niedobór PAI-1"]},"cs":{"name":"Vrozený deficit inhibitoru plasminogenového aktivátoru, typ 1","synonyms":["Vrozený deficit PAI-1"]},"uk":{"name":"Вроджений дефіцит інгібітора активатора плазміногену, тип 1","synonyms":["Вроджений дефіцит PAI-1"],"definition":"A rare hemorrhagic disorder due to a constitutional haemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency."},"zh":{"name":"先天性纤溶酶原激活物抑制剂1型缺乏症","synonyms":["先天性PAI-1型缺乏症"]},"tr":{"name":"Doğumsal plazminojen aktivatör inhibitörü tip 1 eksikliği","synonyms":["Doğumsal PAI-1 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"613329","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B50.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"428643962"},{"source":"MONDO","code":"0013227","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273899","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4381","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":68334,"name":"Rare hemorrhagic disorder due to a constitutional coagulation factors defect","classifications":[156,194]},{"orpha":250808,"name":"Serpinopathy with toxic serpin polymerization","classifications":[156]}],"children":[],"genes":[{"symbol":"SERPINE1","name":"serpin family E member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9207454[PMID]","hgnc":"8583","ensembl":"ENSG00000106366","omim":"173360","loci":["7q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-12","source":"31427261[PMID]_28771291[PMID]_31469483[PMID]","terms":[{"hpo":"HP:0040228","label":"Decreased level of plasminogen","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040230","label":"Decreased level of tissue plasminogen activator","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001934","label":"Persistent bleeding after trauma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004846","label":"Prolonged bleeding after surgery","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040245","label":"Reduced alpha-2-antiplasmin activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040248","label":"Reduced plasminogen activator inhibitor 1 activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040249","label":"Reduced plasminogen activator inhibitor 1 antigen","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000132","label":"Menorrhagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001933","label":"Subcutaneous hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040184","label":"Oral bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011891","label":"Post-partum hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006298","label":"Prolonged bleeding after dental extraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030657","label":"Umbilical cord hematoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100310","label":"Epidural hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011854","label":"Hemoperitoneum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012233","label":"Intramuscular hematoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005261","label":"Joint hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001685","label":"Myocardial fibrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007420","label":"Spontaneous hematomas","frequency":"Excluded (0%)","criteria":null}]}}