{"orpha":98881,"name":"Familial dysfibrinogenemia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Congenital fibrinogen deficiency","url":"https://raremap.alftech.space/d/ORPHA-98881/","orphanet_url":"https://www.orpha.net/en/disease/detail/98881","names":{"fr":{"name":"Dysfibrinogénémie familiale"},"de":{"name":"Dysfibrinogenämie, familiäre"},"es":{"name":"Disfibrinogenemia familiar"},"it":{"name":"Disfibrinogenemia familiare"},"nl":{"name":"Familiale dysfibrinogenemie"},"pt":{"name":"Disfibrinogenemia familiar"},"pl":{"name":"Rodzinna dysfibrynogenemia"},"cs":{"name":"Familiární dysfibrinogenémie"},"uk":{"name":"Сімейна дисфібриногенемія","definition":"Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen."},"zh":{"name":"家族性异常纤维蛋白原血症","definition":"家族性纤维蛋白原异常是一种以循环系统中纤维蛋白原功能异常导致出血倾向为特征的凝血障碍。"},"tr":{"name":"Ailesel disfibrinojenemi"}},"xrefs":[{"source":"OMIM","code":"616004","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B14.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"815934276"},{"source":"MONDO","code":"0014452","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681639","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2004","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":335,"name":"Congenital fibrinogen deficiency","classifications":[156,194]}],"children":[],"genes":[{"symbol":"FGA","name":"fibrinogen alpha chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25320241[PMID]","hgnc":"3661","ensembl":"ENSG00000171560","omim":"134820","loci":["4q31.3"]},{"symbol":"FGB","name":"fibrinogen beta chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25320241[PMID]","hgnc":"3662","ensembl":"ENSG00000171564","omim":"134830","loci":["4q31.3"]},{"symbol":"FGG","name":"fibrinogen gamma chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25320241[PMID]","hgnc":"3694","ensembl":"ENSG00000171557","omim":"134850","loci":["4q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Frequent (79-30%)","criteria":null}]}}