| H00945 | |
| H number | H00945 |
| Name | Factor XIII deficiency |
| Description | Factor XIII deficiency is a rare autosomal recessive disorder characterized by defective cross-linking of fibrin and poor resistance to fibrinolysis. The severity of the bleeding tendency varies from benign symptoms like excessive bruising to life threatening bleeding emergencies such as intracranial hemorrhages. In plasma, FXIII circulates as a pro-transglutaminase composed of two catalytic A subunits and two non-catalytic B subunits. Symptoms that are almost pathognomonic for A subunit deficiency are umbilical bleeding in the neonatal period and repeated fetal wastage in pregnant females. |
| Category | Hematologic disease |
| Network | nt06514(H00945) Coagulation cascade |
| Gene | F13A1 [HSA:2162] [KO:K03917] F13B [HSA:2165] [KO:K03906] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3B14.Z ICD-10: D68.2 OMIM: 613225 613235 |
| Reference | PMID:19141159 AUTHORS Hsieh L, Nugent D TITLE Factor XIII deficiency. JOURNAL Haemophilia 14:1190-200 (2008) DOI:10.1111/j.1365-2516.2008.01857.x PMID:9028951 AUTHORS Mikkola H, Muszbek L, Laiho E, Syrjala M, Hamalainen E, Haramura G, Salmi T, Peltonen L, Palotie A TITLE Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA. JOURNAL Blood 89:1279-87 (1997) |