{"orpha":325,"name":"Congenital factor II deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Dysprothrombinemia","Hypoprothrombinemia","Prothrombin deficiency"],"definition":"A rare inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous and soft tissue bleeding symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-325/","orphanet_url":"https://www.orpha.net/en/disease/detail/325","names":{"fr":{"name":"Déficit congénital en facteur II","synonyms":["Dysprothrombinémie","Déficit en prothrombine","Hypoprothrombinémie"],"definition":"Coagulopathie héréditaire rare due à une activité réduite du facteur II (FII, prothrombine) et caractérisée par des hémorragies cutanéo-muqueuses et de tissus mous."},"de":{"name":"Faktor II-Mangel, kongenitaler","synonyms":["Dysprothrombinämie","Hypoprothrombinämie","Prothrombin-Mangel"],"definition":"Eine seltene hereditäre Blutungsstörung, die auf einer verminderten Aktivität des Faktors II (FII, Prothrombin) beruht und durch Schleimhaut- und Weichteilblutungen gekennzeichnet ist."},"es":{"name":"Deficiencia congénita del factor II","definition":"Es un trastorno hereditario de la coagulación poco frecuente, causado por una reducción de la actividad del factor II (FII, protombina) y caracterizado por síntomas hemorrágicos mucocutáneos y en los tejidos blandos."},"it":{"name":"Deficit congenito del fattore II","synonyms":["Deficit di protrombina","Disprotrombinemia","Ipoprotrombinemia"],"definition":"Si tratta di una malattia emorragica ereditaria, causata dalla diminuzione dell'attività del fattore II (FII, protrombina), caratterizzata da sintomi emorragici muco-cutanei e a livello dei tessuti molli."},"nl":{"name":"Congenitale factor II-deficiëntie","synonyms":["Congenitale factor 2-deficiëntie","Dysprotrombinemie","Hypoprotrombinemie","Protrombinedeficiëntie"],"definition":"Een zeldzame, erfelijke bloedingsstoornis als gevolg van verminderde activiteit van factor II (FII, protrombine), gekarakteriseerd door symptomen van mucocutane bloeding en bloeding van weke delen."},"pt":{"name":"Deficiência de fator II congénita","synonyms":["Deficiência de protrombina","Disprotrombinemia","Hipoprotrombinemia"],"definition":"A deficiência congénita do fator II é uma patologia hemorrágica hereditária por atividade reduzida do fator II (FII, protombina) e é caracterizada por sintomas hemorrágicos mucocutâneos. A deficiência do fator II é a mais rara deficiência de fatores de coagulação."},"pl":{"name":"Wrodzony Niedobór czynnika II","synonyms":["Dysprotrombinemia","Hipoprothrombinemia","Niedobór protrombiny"]},"cs":{"name":"Vrozený deficit faktoru II","synonyms":["Dysprotrombinémie","Hypoprotrombinémie","Deficit protrombinu"]},"uk":{"name":"Вроджений дефіцит фактора II","synonyms":["Диспротромбінемія","Гіпопротромбінемія","Дефіцит протромбіну"],"definition":"A rare inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous and soft tissue bleeding symptoms."},"zh":{"name":"先天性II因子缺乏症","synonyms":["凝血酶原缺乏"]},"tr":{"name":"Doğumsal faktör II eksikliği","synonyms":["Disprotrombinemi","Hipoprotrombinemi","Protrombin eksikliği"]}},"xrefs":[{"source":"OMIM","code":"613679","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B14.Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1522212461"},{"source":"MONDO","code":"0013361","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272317","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2926","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10016076","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":169826,"name":"Congenital vitamin K-dependent coagulation factors deficiency","classifications":[156,194]}],"children":[],"genes":[{"symbol":"F2","name":"coagulation factor II, thrombin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25242243[PMID]_23852823[PMID]_20301327[PMID]","hgnc":"3535","ensembl":"ENSG00000180210","omim":"176930","loci":["11p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Europe","status":"Validated","source":"10595621[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-14","source":"28222949[PMID]_23190616[PMID]_19412729[PMID]_28762299[PMID]_7740448[PMID]_14489469[PMID]","terms":[{"hpo":"HP:0003645","label":"Prolonged partial thromboplastin time","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040250","label":"Reduced prothrombin antigen","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005261","label":"Joint hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011884","label":"Abnormal umbilical stump bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012541","label":"Cephalohematoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030138","label":"Excessive bleeding from superficial cuts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012233","label":"Intramuscular hematoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000132","label":"Menorrhagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030140","label":"Oral cavity 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:0030137","label":"Prolonged bleeding following circumcision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011890","label":"Prolonged bleeding following procedure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004420","label":"Arterial thrombosis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Excluded (0%)","criteria":null}]}}