KEGG   DISEASE: Afibrinogenemia
Entry
H00222                      Disease                                
Name
Afibrinogenemia;
Dysfibrinogenemia
  Supergrp
Inherited thrombophilia [DS:H00223]
Description
Congenital fibrinogen defects caused by mutation of any of fibrinogen genes (FGA, FGB, and FGG) include both quantitative defects (type I deficiencies or afibrinogenemia) and qualitative defects (type II deficiencies or dysfibrinogenemia). Fibrinogen deficiency and dysfunction are associated with bleeding or thrombosis.
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
      H00222  Afibrinogenemia
Pathway-based classification of diseases [BR:br08402]
 Immune system
  nt06514  Coagulation cascade
   H00222  Afibrinogenemia
Pathway
hsa04610  Complement and coagulation cascades
Network
nt06514 Coagulation cascade
Gene
FGA [HSA:2243] [KO:K03903]
FGB [HSA:2244] [KO:K03904]
FGG [HSA:2266] [KO:K03905]
Other DBs
ICD-11: 3B14.0
OMIM: 202400 616004
Reference
PMID:18564189
  Authors
Hill M, Dolan G
  Title
Diagnosis, clinical features and molecular assessment of the dysfibrinogenaemias.
  Journal
Haemophilia 14:889-97 (2008)
DOI:10.1111/j.1365-2516.2008.01795.x
Reference
PMID:16999847
  Authors
Asselta R, Duga S, Tenchini ML
  Title
The molecular basis of quantitative fibrinogen disorders.
  Journal
J Thromb Haemost 4:2115-29 (2006)
DOI:10.1111/j.1538-7836.2006.02094.x
Reference
PMID:16855369
  Authors
Neerman-Arbez M
  Title
Molecular basis of fibrinogen deficiency.
  Journal
Pathophysiol Haemost Thromb 35:187-98 (2006)
DOI:10.1159/000093566

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Network (4)   
   KEGG NETWORK (1)   
   KEGG VARIANT (3)   
Disease (2)   
   OMIM (2)   
Drug (1)   
   KEGG DRUG (1)   
Gene (6)   
   KEGG ORTHOLOGY (3)   
   KEGG GENES (3)   
Literature (3)   
   PubMed (3)   
All databases (16)   

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