KEGG   DISEASE: Factor VII deficiency
Entry
H02256                      Disease                                
Name
Factor VII deficiency;
Hypoproconvertinemia
Description
FVII deficiency is a rare autosomal recessive hemorrhagic condition of variable severity. FVII is a zymogen for a vitamin K-dependent serine protease essential for the initiation of blood coagulation. Complete absence of FVII activity in plasma is usually incompatible with life, and individuals die shortly after birth due to severe hemorrhage. The majority of individuals with mutations in their F7 genes, however, are either asymptomatic or the clinical phenotype is unknown.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H02256  Factor VII 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
     3B14  Other inherited coagulation factor deficiency with bleeding tendency
      H02256  Factor VII deficiency
Related
pathway
hsa04610  Complement and coagulation cascades
Network
nt06514  Coagulation cascade
Gene
F7 [HSA:2155] [KO:K01320]
Other DBs
ICD-11: 3B14.2
ICD-10: D68.2
MeSH: D005168
OMIM: 227500
Reference
  Authors
Au WY, Lam CC, Chan EC, Kwong YL
  Title
Two novel factor VII gene mutations in a Chinese family with factor VII deficiency.
  Journal
Br J Haematol 111:143-5 (2000)
DOI:10.1111/j.1365-2141.2000.02332.x
Reference
  Authors
Zhidong W, Xiaojun H
  Title
Severe factor VII deficiency caused by a novel point mutation (Arg353Pro) combined with a rare Cys22Arg mutation.
  Journal
Thromb Haemost 98:687-8 (2007)
DOI:10.1160/TH07-02-0126
Reference
  Authors
Millar DS, Kemball-Cook G, McVey JH, Tuddenham EG, Mumford AD, Attock GB, Reverter JC, Lanir N, Parapia LA, Reynaud J, Meili E, von Felton A, Martinowitz U, Prangnell DR, Krawczak M, Cooper DN
  Title
Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.
  Journal
Hum Genet 107:327-42 (2000)
DOI:10.1007/s004390000373
Reference
  Authors
McVey JH, Boswell E, Mumford AD, Kemball-Cook G, Tuddenham EG
  Title
Factor VII deficiency and the FVII mutation database.
  Journal
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