H00941 | |
H number | H00941 |
Name | Factor XII deficiency; Hageman factor deficiency |
Description | Factor XII (FXII) deficiency is a rare autosomal recessive disorder. Although FXII deficiency is not associated with a clinical bleeding tendency, FXII is an important protease that plays a major role in the initiation of the intrinsic pathway of blood coagulation. Venous or arterial thrombosis, recurrent miscarriages, and placental abruption were reported in cases with FXII deficiency. |
Category | Hematologic disease |
Network | nt06514(H00941) Coagulation cascade |
Gene | F12 [HSA:2161] [KO:K01328] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 3B15 ICD-10: D68.2 OMIM: 234000 |
Reference | PMID:20022081 AUTHORS Stavrou E, Schmaier AH TITLE Factor XII: what does it contribute to our understanding of the physiology and pathophysiology of hemostasis & thrombosis. JOURNAL Thromb Res 125:210-5 (2010) DOI:10.1016/j.thromres.2009.11.028 PMID:16324213 AUTHORS D'Uva M, Strina I, Mollo A, Ranieri A, De Placido G, Di Micco P TITLE Acquired factor XII deficiency in a woman with recurrent pregnancy loss: working on a differential diagnosis in a single case. JOURNAL J Transl Med 3:43 (2005) DOI:10.1186/1479-5876-3-43 PMID:18294355 AUTHORS Matsubayashi H, Sugi T, Suzuki T, Uchida N, Atsumi H, Izumi S, Mikami M TITLE Decreased factor XII activity is associated with recurrent IVF-ET failure. JOURNAL Am J Reprod Immunol 59:316-22 (2008) DOI:10.1111/j.1600-0897.2007.00564.x |