| H01254 | |
| H number | H01254 |
| Name | Congenital prothrombin deficiency |
| Description | Prothrombin (factor II) deficiency is an autosomal recessive disorder associated with moderate or severe bleeding tendency. It occurs in approximately 1 in 1-2 million people. Prothrombin is activated to thrombin, which in turn proteolytically cleaves fibrinogen to fibrin and contributes to forming a stable fibrin clot. |
| Category | Hematologic disease |
| Network | nt06514(H01254) Coagulation cascade |
| Gene | F2 [HSA:2147] [KO:K01313] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3B14 ICD-10: D68 OMIM: 613679 |
| Reference | PMID:19141155 AUTHORS Meeks SL, Abshire TC TITLE Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment. JOURNAL Haemophilia 14:1159-63 (2008) DOI:10.1111/j.1365-2516.2008.01832.x PMID:21692854 AUTHORS Pasmant E, Dumont B, Lacapere JJ, Dautzenberg MD, Bezeaud A TITLE A severe neonatal presentation of factor II deficiency. JOURNAL Eur J Haematol 87:464-6 (2011) DOI:10.1111/j.1600-0609.2011.01670.x |