{"orpha":79,"name":"Congenital alpha2-antiplasmin deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79/","orphanet_url":"https://www.orpha.net/en/disease/detail/79","names":{"fr":{"name":"Déficit congénital en alpha2-antiplasmine","definition":"Maladie hémorragique rare par déficit congénital en alpha2 antiplasmine, entraînant un défaut de régulation de la fibrinolyse. Elle se caractérise par une tendance hémorragique se manifestant dès l'enfance par des saignements prolongés et des ecchymoses à la suite de traumatismes mineurs et par des épisodes hémorragiques spontanés (souvent dans des endroits inhabituels tels que la diaphyse des os longs)."},"de":{"name":"Alpha-2 Antiplasmin-Mangel, kongenitaler","definition":"Eine seltene Blutungsstörung, die durch einen angeborenen Mangel an Alpha-2-Antiplasmin verursacht wird, der zu einer dysregulierten Fibrinolyse führt und durch eine Blutungsneigung gekennzeichnet ist, die sich bereits im Kindesalter durch anhaltende Blutungen und Ekchymosen nach leichten Traumata und spontanen Blutungsepisoden (oft an ungewöhnlichen Stellen wie der Diaphyse langer Röhrenknochen) manifestiert."},"es":{"name":"Deficiencia congénita de alfa2-antiplasmina","definition":"Es un trastorno hemorrágico poco frecuente causado por un déficit congénito de alfa-2 antiplasmina, que conduce a una desregulación de la fibrinolisis. Está caracterizado por una tendencia hemorrágica que se manifiesta desde la infancia con sangrado prolongado y equimosis a consecuencia de traumatismo y episodios de sangrado espontáneo (con frecuencia en localizaciones poco habituales como la diáfisis de huesos largos)."},"it":{"name":"Deficit congenito di alfa-2-antiplasmina"},"nl":{"name":"Congenitale deficiëntie van alfa2-antiplasmine","definition":"Een zeldzame hemorragische aandoening veroorzaakt door congenitale deficiëntie van alfa2-antiplasmine die leidt tot deregulatie van fibrinolyse, gekenmerkt door bloedingsneiging die zich presenteert vanaf de kindertijd met langdurige bloeding en ecchymose na miniem trauma en episodes van spontane bloeding (vaak op ongewone plaatsen zoals diafyse van pijpbeenderen)."},"pt":{"name":"Deficiência de alfa2-antiplasmina congénita"},"pl":{"name":"Wrodzony Niedobór alfa2-antyplazminy","definition":"Rzadka skaza krwotoczna spowodowana wrodzonym niedoborem alfa2-antyplazminy, która prowadzi do rozregulowania fibrynolizy i charakteryzuje się tendencją do krwotoków od dzieciństwa, z przedłużonymi krwawieniami i wybroczynami po niewielkich urazach oraz z epizodami samoistnych krwawień (często w nietypowych lokalizacjach, takich jak trzon kości długich)."},"cs":{"name":"Vrozený deficit alfa2-antiplasminu"},"uk":{"name":"Вроджений дефіцит альфа2-антиплазміну","definition":"A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones)."},"zh":{"name":"先天性α2-抗纤溶酶蛋白缺乏症"},"tr":{"name":"Doğumsal alfa2-antiplazmin eksikliği"}},"xrefs":[{"source":"OMIM","code":"262850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B50.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"688627594"},{"source":"MONDO","code":"0009883","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274304","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"731","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":250811,"name":"Serpinopathy with loss of serpin function","classifications":[156]}],"children":[],"genes":[{"symbol":"SERPINF2","name":"serpin family F member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17961166[PMID]_11472338[PMID]","hgnc":"9075","ensembl":"ENSG00000167711","omim":"613168","loci":["17p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"23396430[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23396430[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-07","source":"82839[PMID]_11472338[PMID]","terms":[{"hpo":"HP:0005261","label":"Joint hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001934","label":"Persistent bleeding after trauma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012151","label":"Hemothorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012233","label":"Intramuscular hematoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040247","label":"Reduced euglobulin clot lysis time","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011884","label":"Abnormal umbilical stump bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null}]}}