{"orpha":98880,"name":"Familial afibrinogenemia","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-98880/","orphanet_url":"https://www.orpha.net/en/disease/detail/98880","names":{"fr":{"name":"Afibrinogénémie familiale"},"de":{"name":"Afibrinogenämie, familiäre"},"es":{"name":"Afibrinogenemia familiar"},"it":{"name":"Afibrinogenemia familiare"},"nl":{"name":"Familiale afibrinogenemie"},"pt":{"name":"Afibrinogenemia familiar"},"pl":{"name":"Rodzinna afibrynogenemia"},"cs":{"name":"Familiární afibrinogenémie"},"uk":{"name":"Сімейна афібриногенемія","definition":"Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen."},"zh":{"name":"家族性无纤维蛋白原血症","definition":"家族性无纤维蛋白原血症是一种凝血障碍，其特征是由于循环系统完全缺乏纤维蛋白原而出现的出血症状。"},"tr":{"name":"Ailesel afibrinojenemi"}},"xrefs":[{"source":"OMIM","code":"202400","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":"608641873"},{"source":"MONDO","code":"0008737","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2584774","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5761","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":"11460507[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":"11460507[PMID]_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":"11460507[PMID]_17295221[PMID]","hgnc":"3694","ensembl":"ENSG00000171557","omim":"134850","loci":["4q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"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:0000225","label":"Gingival bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0400008","label":"Menometrorrhagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Occasional (29-5%)","criteria":null}]}}