KEGG   DISEASE: Factor V deficiency
Entry
H00220                      Disease                                
Name
Factor V deficiency;
Owren disease
Description
Factor V deficiency is an autosomal recessive hemorrhagic disorder, which is identified as an inherited resistance to the anticoagulant function of activated protein C.
Category
Hematologic disease
Brite
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
     3B14  Other inherited coagulation factor deficiency with bleeding tendency
      H00220  Factor V deficiency
Pathway-based classification of diseases [BR:br08402]
 Immune system
  nt06514  Coagulation cascade
   H00220  Factor V deficiency
Pathway
hsa04610  Complement and coagulation cascades
Network
nt06514 Coagulation cascade
Gene
F5 [HSA:2153] [KO:K03902]
Other DBs
ICD-11: 3B14.Z
MeSH: D005166
OMIM: 227400
Reference
PMID:16476093
  Authors
Yamakage N, Ikejiri M, Okumura K, Takagi A, Murate T, Matushita T, Naoe T, Yamamoto K, Takamatsu J, Yamazaki T, Hamaguchi M, Kojima T
  Title
A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene.
  Journal
Haemophilia 12:172-8 (2006)
DOI:10.1111/j.1365-2516.2006.01206.x
Reference
PMID:9576178
  Authors
Guasch JF, Cannegieter S, Reitsma PH, van't Veer-Korthof ET, Bertina RM
  Title
Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene.
  Journal
Br J Haematol 101:32-9 (1998)
DOI:10.1046/j.1365-2141.1998.00664.x
Reference
PMID:7590506
  Authors
De Stefano V, Leone G
  Title
Resistance to activated protein C due to mutated factor V as a novel cause of inherited thrombophilia.
  Journal
Haematologica 80:344-56 (1995)
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