{"orpha":327,"name":"Congenital factor VII deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital proconvertin deficiency","Hypoproconvertinemia"],"definition":"A rare, genetic, congenital vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-327/","orphanet_url":"https://www.orpha.net/en/disease/detail/327","names":{"fr":{"name":"Déficit congénital en facteur VII","synonyms":["Déficit constitutionnel en proconvertine","Hypoproconvertinémie"],"definition":"Maladie génétique rare secondaire à une déficience du facteur VII (FVII) de la coagulation. La diminution voire l'absence de ce facteur dépendant de la vitamine K ou la présence d'un facteur peu ou non-fonctionnel peut entraîner un syndrome hémorragique de gravité variable."},"de":{"name":"Faktor VII-Mangel, kongenitaler","synonyms":["Hypoprokonvertinämie","Prokonvertin-Mangel, konstitutioneller"],"definition":"Eine seltene, genetisch bedingte Vitamin-K-abhängige Form von Blutungsneigung, die durch verminderte Werte oder Fehlen des Gerinnungsfaktors VII (FVII) gekennzeichnet ist und zu Blutungsdiathesen unterschiedlichen Schweregrades führt."},"es":{"name":"Deficiencia congénita del factor VII","definition":"Es un trastorno congénito de origen genético y poco frecuente, por deficiencia del factor de coagulación VII dependiente de la vitamina K, caracterizado por niveles reducidos o ausentes del factor de coagulación VII (FVII) que resulta en diátesis hemorrágica de gravedad variable."},"it":{"name":"Deficit congenito del fattore VII","synonyms":["Deficit costituzionale di proconvertina","Ipoproconvertinemia"],"definition":"È un deficit genetico congenito raro del fattore della coagulazione dipendente dalla vitamina K, caratterizzato dall'assenza o da livelli ridotti del fattore della coagulazione VII (FVII), che causano diatesi emorragica di gravità variabile."},"nl":{"name":"Congenitale factor VII-deficiëntie","synonyms":["Congenitale factor 7-deficiëntie","Congenitale proconvertinedeficiëntie","Hypoproconvertinemie"],"definition":"Een zeldzame, genetische, congenitale vitamine K-afhankelijke stoornis met deficiëntie van coagulatiefactoren, die wordt gekarakteriseerd door verlaagde gehaltes of afwezigheid van coagulatiefactor VII (FVII), wat leidt tot bloedingsneiging met variabele gradaties van ernst."},"pt":{"name":"Deficiência de fator VII congénita","synonyms":["Deficiência de proconvertina congénita","Hipoproconvertinemia"],"definition":"A deficiência do factor VII (FVII) é uma doença hemorrágica hereditária rara causada pela diminuição ou ausência deste factor de coagulação."},"pl":{"name":"Wrodzony Niedobór czynnika VII","synonyms":["Hipoprokonwertynemia","Wrodzony Niedobór prokonwertyny"]},"cs":{"name":"Vrozený deficit faktoru VII","synonyms":["Hypoprokonvertinémie","Dědičný deficit prokonvertinu"]},"uk":{"name":"Вроджений дефіцит фактора VII","synonyms":["Вроджений дефіцит проконвертину","Гіпопроконвертинемія"],"definition":"A rare, genetic, congenital vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity."},"zh":{"name":"先天性VII因子缺乏症","synonyms":["先天性转变加速因子缺乏症"]},"tr":{"name":"Doğumsal faktör VII eksikliği","synonyms":["Hipoprokonvertinemi","Doğumsal prokonvertin eksikliği"]}},"xrefs":[{"source":"OMIM","code":"227500","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":"2034923927"},{"source":"MONDO","code":"0009211","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005168","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0015503","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2238","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10016079","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":"F7","name":"coagulation factor VII","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3544","ensembl":"ENSG00000057593","omim":"613878","loci":["13q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.33,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-01","source":"19141157[PMID]_28350321[PMID]","terms":[{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005261","label":"Joint hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000132","label":"Menorrhagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004846","label":"Prolonged bleeding after surgery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010881","label":"Abnormality of the umbilical cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000138","label":"Ovarian cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011891","label":"Post-partum hemorrhage","frequency":"Occasional (29-5%)","criteria":null}]}}