KEGG   DISEASE: Inherited thrombophilia
Entry
H00223                      Disease                                
Name
Inherited thrombophilia;
Thrombophilia due to thrombin defect (THPH)
  Subgroup
Antithrombin III deficiency [DS:H01381]
Congenital dysfibrinogenemia [DS:H00222]
Description
Congenital thrombophilias are inherited disorders associated with an increased tendency to venous thromboembolism caused by mutation of genes affecting the anticoagulant pathways of blood coagulation.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00223  Inherited thrombophilia
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
   3B61  Thrombophilia
    H00223  Inherited thrombophilia
Related
pathway
hsa04610  Complement and coagulation cascades
hsa04611  Platelet activation
hsa04613  Neutrophil extracellular trap formation
Network
nt06514  Coagulation cascade
Gene
(THPH1) F2 [HSA:2147] [KO:K01313]
(THPH2) F5 [HSA:2153] [KO:K03902]
(THPH3/4) PROC [HSA:5624] [KO:K01344]
(THPH5/6) PROS1 [HSA:5627] [KO:K03908]
(THPH7) SERPINC1 [HSA:462] [KO:K03911]
(THPH8) F9 [HSA:2158] [KO:K01321]
(THPH10) SERPIND1 [HSA:3053] [KO:K03912]
(THPH11) HRG [HSA:3273] [KO:K23410]
(THPH12) THBD [HSA:7056] [KO:K03907]
FGA [HSA:2243] [KO:K03903]
FGB [HSA:2244] [KO:K03904]
FGG [HSA:2266] [KO:K03905]
Other DBs
ICD-11: 3B61.0
ICD-10: D68.2
OMIM: 188050 188055 176860 612304 612336 613118 300807 612356 613116 614486 616004
Reference
PMID:31577252 (THPH, FGA, FGB, FGG)
  Authors
Dautaj A, Krasi G, Bushati V, Precone V, Gheza M, Fioretti F, Sartori M, Costantini A, Benedetti S, Bertelli M
  Title
Hereditary thrombophilia.
  Journal
Acta Biomed 90:44-46 (2019)
DOI:10.23750/abm.v90i10-S.8758
Reference
PMID:19846852 (THPH8)
  Authors
Simioni P, Tormene D, Tognin G, Gavasso S, Bulato C, Iacobelli NP, Finn JD, Spiezia L, Radu C, Arruda VR
  Title
X-linked thrombophilia with a mutant factor IX (factor IX Padua).
  Journal
N Engl J Med 361:1671-5 (2009)
DOI:10.1056/NEJMoa0904377
Reference
  Authors
Dahlback B
  Title
Advances in understanding pathogenic mechanisms of thrombophilic disorders.
  Journal
Blood 112:19-27 (2008)
DOI:10.1182/blood-2008-01-077909
Reference
  Authors
Simioni P, Tormene D, Spiezia L, Tognin G, Rossetto V, Radu C, Prandoni P
  Title
Inherited thrombophilia and venous thromboembolism.
  Journal
Semin Thromb Hemost 32:700-8 (2006)
DOI:10.1055/s-2006-951298
Reference
  Authors
Buchanan GS, Rodgers GM, Ware Branch D
  Title
The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation.
  Journal
Best Pract Res Clin Obstet Gynaecol 17:397-411 (2003)
DOI:10.1016/S1521-6934(03)00010-5
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