KEGG   DISEASE: Fletcher factor deficiency
Entry
H01078                      Disease                                
Name
Fletcher factor deficiency;
Prekallikrein deficiency
Description
Fletcher factor deficiency, also called Prekallikrein deficiency, is an autosomal recessive heterozygous disorder of coagulation that is caused by defects in KLKB1. Although the patients had no abnormal bleeding tendency, their blood showed much prolonged activated partial thromboplastin time and delayed thromboplastin generation but normal prothrombin time.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01078  Fletcher factor 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
     3B15  Inherited coagulation factor deficiency without bleeding tendency
      H01078  Fletcher factor deficiency
Related
pathway
hsa04610  Complement and coagulation cascades
Gene
KLKB1 [HSA:3818] [KO:K01324]
Other DBs
ICD-11: 3B15
ICD-10: D68.8
OMIM: 612423
Reference
  Authors
Girolami A, Scarparo P, Candeo N, Lombardi AM
  Title
Congenital prekallikrein deficiency.
  Journal
Expert Rev Hematol 3:685-95 (2010)
DOI:10.1586/ehm.10.69
Reference
PMID:6902559
  Authors
Ragni MV, Lewis JH, Hasiba U, Spero JA
  Title
Prekallikrein (Fletcher factor) deficiency in clinical disease states.
  Journal
Thromb Res 18:45-54 (1980)
DOI:10.1016/0049-3848(80)90169-3
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