KEGG   DISEASE: Factor XI deficiency
Entry
H00938                      Disease                                
Name
Factor XI deficiency;
Plasma thromboplastin antecedent deficiency;
Rosenthal syndrome
Description
Factor XI (FXI) deficiency is an injury-related bleeding disorder common in Ashkenazi Jews and rare worldwide. FXI deficiency is characterized by infrequent spontaneous bleeding, but increased risk of hemorrhagic complications especially after trauma or surgery. More than 180 mutations in the FXI gene have been reported in patients with FXI deficiency.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00938  Factor XI deficiency
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Coagulation defects, purpura or other haemorrhagic or related conditions
   Coagulation defects
    Congenital or constitutional haemorrhagic condition
     3B13  Haemophilia C
      H00938  Factor XI deficiency
Related
pathway
hsa04610  Complement and coagulation cascades
Gene
F11 [HSA:2160] [KO:K01323]
Other DBs
ICD-11: 3B13
ICD-10: D68.1
OMIM: 612416
Reference
  Authors
Seligsohn U
  Title
Factor XI deficiency in humans.
  Journal
J Thromb Haemost 7 Suppl 1:84-7 (2009)
DOI:10.1111/j.1538-7836.2009.03395.x
Reference
  Authors
Duga S, Salomon O
  Title
Factor XI Deficiency.
  Journal
Semin Thromb Hemost 35:416-25 (2009)
DOI:10.1055/s-0029-1225764
Reference
  Authors
Franchini M, Manzato F, Salvagno GL, Montagnana M, Lippi G
  Title
The use of desmopressin in congenital factor XI deficiency: a systematic review.
  Journal
Ann Hematol 88:931-5 (2009)
DOI:10.1007/s00277-009-0792-9
LinkDB

» Japanese version

DBGET integrated database retrieval system