{"orpha":749,"name":"Congenital prekallikrein deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic coagulation disorder characterized by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-749/","orphanet_url":"https://www.orpha.net/en/disease/detail/749","names":{"fr":{"name":"Déficit congénital en prékallicréine","definition":"Coagulopathie génétique rare caractérisée par la découverte généralement fortuite à la suite des examens de laboratoire d'un allongement du temps de céphaline activée (TCA) , en présence d'un temps de prothrombinenormal, dû au déficit en prékallikréine qui n'est pas produite en quantité suffisante ou ne remplit plus sa fonction. La plupart des patients restent asymptomatiques, bien qu'une association avec des maladies cardiovasculaires (hypertension, infarctus du myocarde, autres maladies des artères coronaires et accidents vasculaires cérébraux ischémiques) et une thrombose veineuse, ainsi que de rares cas avec une tendance accrue aux saignements aient été rapportés."},"de":{"name":"Präkallikrein-Mangel, kongenitaler","definition":"Eine seltene genetische Gerinnungsstörung, die durch den meist zufälligen Laborbefund einer verlängerten aktivierten partiellen Thromboplastinzeit (aPTT) bei normaler Prothrombinzeit aufgrund eines Mangels an normalem Präkallikrein oder des Vorhandenseins eines nicht funktionierenden Präkallikreins gekennzeichnet ist. Die meisten Patienten bleiben klinisch asymptomatisch, obwohl über eine Assoziation mit kardiovaskulären Erkrankungen (Hypertonie, Myokardinfarkt, andere koronare Herzkrankheiten und ischämischer Schlaganfall) und venösen Thrombosen sowie in seltenen Fällen über eine erhöhte Blutungsneigung berichtet wurde."},"es":{"name":"Deficiencia congénita de precalicreína","definition":"Es un trastorno genético poco frecuente de la coagulación que se caracteriza por el hallazgo de laboratorio, generalmente incidental, de un tiempo parcial de tromboplastina activada (TTPa) prolongado con un tiempo de protrombina normal, debido a una deficiencia de precalicreína o a la presencia de precalicreína no funcional. La mayoría de los pacientes permanecen clínicamente asintomáticos, aunque se ha descrito la asociación con enfermedades cardiovasculares (hipertensión, infarto de miocardio, otras enfermedades de las arterias coronarias e ictus isquémicos) y trombosis venosa, así como casos infrecuentes de tendencia incrementada al sangrado."},"it":{"name":"Deficit congenito di precallicreina","definition":"Si tratta di una malattia genetica rara della coagulazione, caratterizzata da un tempo di tromboplastina parziale attivata (aPTT) prolungato (di solito evidenziato casualmente attraverso gli esami di laboratorio) e da un tempo di protrombina normale, causata da un deficit della precallicreina o da sue anomalie funzionali. La maggior parte dei pazienti è asintomatica, ma il deficit può associarsi a malattie cardiovascolari (ipertensione, infarto del miocardio, altre coronaropatie e ictus ischemico), a trombosi venosa e, in rari casi, alla tendenza alle emorragie."},"nl":{"name":"Congenitale prekallikreïnedeficiëntie","definition":"Een zeldzame, genetische stollingsstoornis, gekarakteriseerd door de meestal toevallige laboratoriumbevinding van een verhoogde geactiveerde partiële tromboplastinetijd (aPTT) maar normale protrombinetijd, als gevolg van deficiëntie van normaal prekallikreïne of aanwezigheid van niet-functioneel prekallikreïne. De meeste patiënten blijven klinisch asymptomatisch, hoewel associatie met cardiovasculaire aandoeningen (hypertensie, hartinfarct, andere aandoeningen van kransslagader, en ischemische beroerte) en veneuze trombose, alsook zeldzame gevallen met verhoogde bloedingsneiging werden gerapporteerd."},"pt":{"name":"Deficiência de precalicreína congénita"},"pl":{"name":"Wrodzony Niedobór prekalikreiny"},"cs":{"name":"Vrozený deficit prekalikreinu"},"uk":{"name":"Вроджений дефіцит прекалікреїну","definition":"A rare genetic coagulation disorder characterized by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported."},"zh":{"name":"先天性前激肽释放酶原缺乏症"},"tr":{"name":"Doğumsal prekallikrein eksikliği"}},"xrefs":[{"source":"OMIM","code":"612423","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":"2010669339"},{"source":"MONDO","code":"0012901","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562725","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272339","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4477","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":"KLKB1","name":"kallikrein B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15461630[PMID]_20301226[PMID]","hgnc":"6371","ensembl":"ENSG00000164344","omim":"229000","loci":["4q35.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":80.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}