{"orpha":483,"name":"Congenital high-molecular-weight kininogen deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic hematologic disease characterized by abnormal surface-mediated activation of fibrinolysis due to the deficiency of high-molecular-weight kininogen in plasma. Activated partial thromboplastin time (aPTT) may be prolonged. Clinically, patients are typically asymptomatic and do not show increased bleeding or thrombotic tendency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-483/","orphanet_url":"https://www.orpha.net/en/disease/detail/483","names":{"fr":{"name":"Déficit congénital en kininogène de haut poids moléculaire","definition":"Maladie hématologique rare d'origine génétique caractérisée par une activation anormale de la fibrinolyse à la surface cellulaire due à une carence en kininogène de haut poids moléculaire dans le plasma. Le temps de céphaline activée (TCA) peut être prolongé. Sur le plan clinique, les patients sont généralement asymptomatiques et ne manifestent pas de tendance accrue à l'hémorragie ou thrombose."},"de":{"name":"High-Molecular-Weight Kininogen-Mangel, kongenitaler","synonyms":["Fitzgerald-Faktor-Mangel","HMWK-Defizienz","Hereditärer Mangel an hochmolekularem Kininogen"],"definition":"Eine genetisch bedingte hämatologische Erkrankung, die durch eine abnorme oberflächenvermittelte Aktivierung der Fibrinolyse aufgrund eines Mangels an hochmolekularem Kininogen (HMWK) im Plasma gekennzeichnet ist. Die aktivierte partielle Thromboplastinzeit (aPTT) kann sich verlängern. Klinisch sind die Patienten in der Regel asymptomatisch und zeigen keine erhöhte Blutungsneigung oder Thromboseneigung."},"es":{"name":"Deficiencia congénita de quininógeno de alto peso molecular","definition":"Es una enfermedad hematológica genética y poco frecuente caracterizada por la activación anómala de la fibrinólisis mediada por contacto con una superficie debido a la deficiencia de quininógeno de alto peso molecular en el plasma. El tiempo parcial de tromboplastina activada (TTPa) puede prolongarse. Clínicamente, los pacientes suelen permanecer asintomáticos y no muestran un incremento de las hemorragias o tendencia trombótica."},"it":{"name":"Deficit congenito di chininogeno ad alto peso molecolare","definition":"Si tratta di una malattia ematica genetica rara, caratterizzata da un'attivazione anomala della fibrinolisi mediata dalla superficie, causata da un deficit del chininogeno ad alto peso molecolare nel plasma. Il tempo di protrombina parziale attivata (aPTT) può essere prolungato. Dal punto di vista clinico, di solito i pazienti sono asintomatici e non presentano tendenza alle emorragie o agli eventi trombotici."},"nl":{"name":"Congenitale deficiëntie van hoogmoleculair kininogeen","definition":"Een zeldzame, genetische hematologische aandoening, gekarakteriseerd door abnormale via oppervlak gemedieerde activatie van fibrinolyse als gevolg van deficiëntie van kininogeen met hoog moleculair gewicht in plasma. Geactiveerde partiële tromboplastinetijd (aPTT) kan verhoogd zijn. Patiënten zijn klinisch doorgaans asymptomatisch en vertonen geen verhoogde neiging tot bloeding of trombose."},"pt":{"name":"Deficiência de quininogénio de alto peso molecular congénita"},"pl":{"name":"Wrodzony Niedobór kininogenu wielkocząsteczkowego"},"cs":{"name":"Vrozený deficit vysokomolekulárního kininogenu"},"uk":{"name":"Вроджений дефіцит високомолекулярного кініногену","definition":"A rare genetic hematologic disease characterized by abnormal surface-mediated activation of fibrinolysis due to the deficiency of high-molecular-weight kininogen in plasma. Activated partial thromboplastin time (aPTT) may be prolonged. Clinically, patients are typically asymptomatic and do not show increased bleeding or thrombotic tendency."},"zh":{"name":"先天性高分子量激肽原缺乏症"},"tr":{"name":"Doğumsal yüksek moleküler ağırlıklı kininojen eksikliği"}},"xrefs":[{"source":"OMIM","code":"228960","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B15","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"453135247"},{"source":"MONDO","code":"0009234","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272340","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2684","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]}],"children":[],"genes":[{"symbol":"KNG1","name":"kininogen 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17522339[PMID]","hgnc":"6383","ensembl":"ENSG00000113889","omim":"612358","loci":["3q27.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult","Childhood"],"prevalence":[],"phenotypes":null}