FXI deficiency

GPTKB entity

Statements (32)
Predicate Object
gptkbp:instanceOf gptkb:disease
bleeding disorder
gptkbp:alsoKnownAs gptkb:hemophilia_C
gptkb:Factor_XI_deficiency
gptkb:Rosenthal_syndrome
gptkbp:category coagulation disorder
gptkbp:causedBy deficiency of coagulation factor XI
gptkbp:compatibleWith spontaneous joint bleeding (unlike hemophilia A and B)
gptkbp:complication bleeding after dental procedures
bleeding after surgery
gptkbp:diagnosedBy factor XI assay
prolonged activated partial thromboplastin time (aPTT)
gptkbp:firstDescribed 1953
Rosenthal et al.
gptkbp:frequency rare
gptkbp:gene F11
https://www.w3.org/2000/01/rdf-schema#label FXI deficiency
gptkbp:ICD-10_code D68.2
gptkbp:inheritance autosomal recessive
can be autosomal dominant (mild cases)
gptkbp:OMIM 612416
gptkbp:prevalence more common in Ashkenazi Jews
gptkbp:symptom easy bruising
menorrhagia
postoperative bleeding
nosebleeds
prolonged bleeding after injury
gptkbp:treatment antifibrinolytic agents
fresh frozen plasma
factor XI concentrate
gptkbp:bfsParent gptkb:FXI
gptkbp:bfsLayer 7