{"orpha":335,"name":"Congenital fibrinogen deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A group of rare inherited coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be rarely combined (hypodysfibrinogenemia).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-335/","orphanet_url":"https://www.orpha.net/en/disease/detail/335","names":{"fr":{"name":"Déficit congénital en fibrinogène","definition":"Groupe de coagulopathies héréditaires rares caractérisées par des hémorragies légères à sévères, résultant d'une diminution de la quantité et/ou de la qualité du fibrinogène circulant. L'afibrinogénémie (absence complète de fibrinogène) et l'hypofibrinogénémie (concentration réduite de fibrinogène plasmatique) correspondent à des anomalies quantitatives du fibrinogène tandis que la dysfibrinogénémie correspond à une anomalie fonctionnelle du fibrinogène. Dans de rares cas, l'hypofibrinogénémie et la dysfibrinogénémie peuvent être associées (hypodysfibrinogénémie)."},"de":{"name":"Fibrinogen-Mangel, kongenitaler","definition":"Eine Gruppe seltener vererbter Gerinnungsstörungen, die durch leichte bis schwere Blutungssymptome gekennzeichnet sind, die auf eine verminderte Menge und/oder Qualität des zirkulierenden Fibrinogens zurückzuführen sind. Afibrinogenämie (völliges Fehlen von Fibrinogen) und Hypofibrinogenämie (verminderte Fibrinogenkonzentration im Plasma) entsprechen quantitativen Anomalien des Fibrinogens, während Dysfibrinogenämie einer funktionellen Anomalie des Fibrinogens entspricht. Selten können Hypo- und Dysfibrinogenämie kombiniert werden (Hypodysfibrinogenämie)."},"es":{"name":"Deficiencia congénita de fibrinógeno","definition":"Es un grupo de trastornos hereditarios de la coagulación poco frecuente caracterizado por síntomas hemorrágicos, que varían de leves a graves, debido a la reducción de la cantidad o calidad del fibrinógeno circulante. La afibrinogenemia (ausencia total de fibrinógeno) y la hipofibrinogenemia (concentración plasmática reducida de fibrinógeno) corresponden a anomalías cuantitativas del fibrinógeno, mientras que la disfibrinogenemia corresponde a una anomalía funcional del fibrinógeno. De forma poco habitual, la hipo- y la disfibrinogenemia pueden presentarse de forma combinada (hipodisfibrinogenemia)."},"it":{"name":"Deficit congenito di fibrinogeno"},"nl":{"name":"Congenitale deficiëntie van fibrinogeen","definition":"Een groep van zeldzame erfelijke stollingsstoornissen, gekenmerkt door bloedingssymptomen gaande van mild tot ernstig als gevolg van een verminderde kwantiteit en/of kwaliteit van circulerend fibrinogeen. Afibrinogenemie (volledige afwezigheid van fibrinogeen) en hypofibrinogenemie (verminderde concentratie van fibrinogeen in plasma) zijn kwantitatieve afwijkingen van fibrinogeen, terwijl dysfibrinogenemie een functionele anomalie van fibrinogeen is. Hypo- en dysfibrinogenemie kunnen in zeldzame gevallen gecombineerd zijn (hypodysfibrinogenemie)."},"pt":{"name":"Deficiência de fibrinogénio congénita","definition":"As deficiências congénitas de fibrinogénio são patologias da coagulação caracterizadas por sintomas hemorrágicos que variam de ligeiros a graves resultando de quantidade e/ou qualidade reduzida de fibrinogéneo na circulação. A afibrinogenemia (ausência completa de fibrinogéneo) e hipofibrinogenemia (concentração de fibrinogéneo plasmático reduzida) (ver estes termos) correspondem a anomalias quantitativas de fibrinogénio, enquanto que a disfibrinogenemia (ver estes termo) corresponde a uma anomalia funcional de fibrinogéneo. A hipo e a disfibrinogenemia podem ser frequentemente combinadas (hipodisfibrinogenemia)."},"pl":{"name":"Wrodzony Niedobór fibrynogenu"},"cs":{"name":"Vrozený deficit fibrinogenu"},"uk":{"name":"Вроджений дефіцит фібриногену","definition":"Rare inherited coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia)."},"zh":{"name":"先天性纤维蛋白原缺乏症"},"tr":{"name":"Doğumsal fibrinojen eksikliği"}},"xrefs":[{"source":"OMIM","code":"202400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616004","qualifier":"BTNT","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":"E","icd_relation":"specific","validated":true,"icd11_uri":"1452989457"},{"source":"MONDO","code":"0018060","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2062367","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2320","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":68334,"name":"Rare hemorrhagic disorder due to a constitutional coagulation factors defect","classifications":[156,194]}],"children":[{"orpha":98880,"name":"Familial afibrinogenemia","type":"Clinical subtype"},{"orpha":98881,"name":"Familial dysfibrinogenemia","type":"Clinical subtype"},{"orpha":248408,"name":"Familial hypodysfibrinogenemia","type":"Clinical subtype"},{"orpha":101041,"name":"Familial hypofibrinogenemia","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":98880,"name":"Familial afibrinogenemia"}},{"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"],"via":{"orpha":98881,"name":"Familial dysfibrinogenemia"}},{"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"],"via":{"orpha":101041,"name":"Familial hypofibrinogenemia"}},{"symbol":"FGA","name":"fibrinogen alpha chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14615374[PMID]","hgnc":"3661","ensembl":"ENSG00000171560","omim":"134820","loci":["4q31.3"],"via":{"orpha":248408,"name":"Familial hypodysfibrinogenemia"}},{"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"],"via":{"orpha":98880,"name":"Familial afibrinogenemia"}},{"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"],"via":{"orpha":98881,"name":"Familial dysfibrinogenemia"}},{"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"],"via":{"orpha":101041,"name":"Familial hypofibrinogenemia"}},{"symbol":"FGB","name":"fibrinogen beta chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22955321[PMID]","hgnc":"3662","ensembl":"ENSG00000171564","omim":"134830","loci":["4q31.3"],"via":{"orpha":248408,"name":"Familial hypodysfibrinogenemia"}},{"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"],"via":{"orpha":98880,"name":"Familial afibrinogenemia"}},{"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"],"via":{"orpha":98881,"name":"Familial dysfibrinogenemia"}},{"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"],"via":{"orpha":101041,"name":"Familial hypofibrinogenemia"}},{"symbol":"FGG","name":"fibrinogen gamma chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15632207[PMID]","hgnc":"3694","ensembl":"ENSG00000171557","omim":"134850","loci":["4q32.1"],"via":{"orpha":248408,"name":"Familial hypodysfibrinogenemia"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Europe","status":"Not yet validated","source":"National haemophilia foundation[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-13","source":"7363509[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011884","label":"Abnormal umbilical stump bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009723","label":"Abnormality of the subungual region","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100845","label":"Anaphylactic shock","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100759","label":"Clubbing of fingers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012886","label":"Hemorrhagic ovarian cyst","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011029","label":"Internal hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002179","label":"Opisthotonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001667","label":"Right ventricular hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012223","label":"Splenic rupture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001933","label":"Subcutaneous hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002580","label":"Volvulus","frequency":"Very frequent (99-80%)","criteria":null}]}}