{"orpha":101041,"name":"Familial hypofibrinogenemia","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-101041/","orphanet_url":"https://www.orpha.net/en/disease/detail/101041","names":{"fr":{"name":"Hypofibrinogénémie familiale"},"de":{"name":"Hypofibrinogenämie, familiäre"},"es":{"name":"Hipofibrinogenemia familiar"},"it":{"name":"Ipofibrinogenemia familiare"},"nl":{"name":"Familiale hypofibrinogenemie"},"pt":{"name":"Hipofibrinogenemia familiar"},"pl":{"name":"Hipofirynogenemia rodzinna"},"cs":{"name":"Familiární hypofibrinogenémie"},"uk":{"name":"Сімейна гіпофібриногенемія","definition":"Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration."},"zh":{"name":"家族性低纤维蛋白原血症","definition":"家族性低纤维蛋白原血症是一种凝血障碍，其特征是创伤或手术后由于血浆纤维蛋白原浓度降低而出现轻微出血症状。"},"tr":{"name":"Ailesel hipofibrinojenemi"}},"xrefs":[{"source":"OMIM","code":"202400","qualifier":"NTBT","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":"559585471"},{"source":"MONDO","code":"0015096","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681803","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2887","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":"18676163[PMID]_17295221[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":"17295221[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":"18676163[PMID]_17295221[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}]}}