KEGG   DISEASE: H00945Help
Entry
H00945                      Disease                                

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
BRITE hierarchy
Pathway
Complement and coagulation cascades
Gene
F13A1 [HSA:2162] [KO:K03917]
F13B [HSA:2165] [KO:K03906]
Drug
Human blood-coagulation factor XIII fraction, dried [DR:D08802]
Other DBs
ICD-10: 
OMIM: 
Reference
  Authors
Hsieh L, Nugent D
  Title
Factor XIII deficiency.
  Journal
Haemophilia 14:1190-200 (2008)
Reference
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)

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