Disease-gene associations mined from literature

Human genes for factor XIII deficiency

Factor XIII deficiency [DOID:2211]

Factor XIII deficiency may occur very rarely, and can cause a severe bleeding tendency. Incidence is 1 in a million to 1 in 5 million people. Most are due to mutations in the A subunit. Administration of recombinant A subunit improves clot stability and is becoming a therapeutic option for patients with this condition. This deficiency leads to defective cross-linking of fibrin and vulnerability to late re-bleeds when the primary hemostatic plug is overwhelmed. Bleeding tendencies similar to hemophiliacs develop such as hemarthroses and deep tissue bleeding.

Synonyms:  factor XIII deficiency,  DOID:2211,  Factor XIII deficiency disease (disorder),  Hereditary factor XIII deficiency disease (disorder),  deficiency, Laki-Lorand factor ...

Linkouts:  OMIM #1 #2