| H00222 | |
| H number | H00222 |
| Name | Afibrinogenemia; Dysfibrinogenemia |
| Description | Congenital fibrinogen defects caused by mutation of any of fibrinogen genes (FGA, FGB, and FGG) include both quantitative defects (type I deficiencies or afibrinogenemia) and qualitative defects (type II deficiencies or dysfibrinogenemia). Fibrinogen deficiency and dysfunction are associated with bleeding or thrombosis. |
| Category | Hematologic disease |
| Network | nt06514(H00222) Coagulation cascade |
| Gene | FGA [HSA:2243] [KO:K03903] FGB [HSA:2244] [KO:K03904] FGG [HSA:2266] [KO:K03905] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3B14.0 ICD-10: D68.2 OMIM: 202400 616004 |
| Reference | PMID:18564189 AUTHORS Hill M, Dolan G TITLE Diagnosis, clinical features and molecular assessment of the dysfibrinogenaemias. JOURNAL Haemophilia 14:889-97 (2008) DOI:10.1111/j.1365-2516.2008.01795.x PMID:16999847 AUTHORS Asselta R, Duga S, Tenchini ML TITLE The molecular basis of quantitative fibrinogen disorders. JOURNAL J Thromb Haemost 4:2115-29 (2006) DOI:10.1111/j.1538-7836.2006.02094.x PMID:16855369 AUTHORS Neerman-Arbez M TITLE Molecular basis of fibrinogen deficiency. JOURNAL Pathophysiol Haemost Thromb 35:187-98 (2006) DOI:10.1159/000093566 |