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KEGG   DISEASE: Hemophilia
Entry
H00219                      Disease                                
Name
Hemophilia
  Subgroup
Hemophilia A (HEMA)
Hemophilia B (HEMB)
von Willebrand disease (VWD) [DS:H02092]
von Willebrand disease, platelet-type [DS:H02093]
Description
Hemophilia A and B are X-linked recessive disorders which are the most common hereditary hemorrhagic disorders caused by a deficiency or dysfunction of blood coagulation factor VIII (FVIII) and factor IX (FIX), respectively. Von Willebrand disease is caused by quantitative and/or qualitative defects of von Willebrand factor and inherited in both autosomal dominant and recessive manner.
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
     3B10  Hereditary factor VIII deficiency
      H00219  Hemophilia
     3B11  Hereditary factor IX deficiency
      H00219  Hemophilia
     3B12  Von Willebrand disease
      H00219  Hemophilia
Pathway-based classification of diseases [BR:br08402]
 Immune system
  nt06514  Coagulation cascade
   H00219  Hemophilia
Pathway
hsa04610  Complement and coagulation cascades
Network
nt06514 Coagulation cascade
Gene
(HEMA) F8 [HSA:2157] [KO:K03899]
(HEMB) F9 [HSA:2158] [KO:K01321]
(VWD) VWF [HSA:7450] [KO:K03900]
(VWDP) GP1BA [HSA:2811] [KO:K06261]
Drug
Tranexamic acid [DR:D01136]
Freeze-dried human blood-coagulation factor IX [DR:D08797]
Valoctocogene roxaparvovec [DR:D12434]
Etranacogene dezaparvovec [DR:D12500]
Fidanacogene elaparvovec [DR:D12908]
Emicizumab [DR:D10821]
Concizumab [DR:D11847]
Marstacimab [DR:D11261]
Desmopressin acetate [DR:D02235]
Sodium phosphate P 32 [DR:D05870]
Antihemophilic factor [DR:D02958]
Other DBs
ICD-11: 3B10.0 3B11.0 3B12
ICD-10: D66 D67 D68.0
OMIM: 306700 306900 193400 613554 277480 177820
Reference
PMID:15205640
  Authors
Lee JW
  Title
Von Willebrand disease, hemophilia A and B, and other factor deficiencies.
  Journal
Int Anesthesiol Clin 42:59-76 (2004)
DOI:10.1097/00004311-200404230-00007
Reference
PMID:17178659
  Authors
Franchini M
  Title
Advances in the diagnosis and management of von Willebrand disease.
  Journal
Hematology 11:219-25 (2006)
DOI:10.1080/10245330600841311
Reference
PMID:16684001
  Authors
Peyvandi F, Jayandharan G, Chandy M, Srivastava A, Nakaya SM, Johnson MJ, Thompson AR, Goodeve A, Garagiola I, Lavoretano S, Menegatti M, Palla R, Spreafico M, Tagliabue L, Asselta R, Duga S, Mannucci PM
  Title
Genetic diagnosis of haemophilia and other inherited bleeding disorders.
  Journal
Haemophilia 12 Suppl 3:82-9 (2006)
DOI:10.1111/j.1365-2516.2006.01263.x
Reference
PMID:2986011 (HEMA)
  Authors
Gitschier J, Drayna D, Tuddenham EG, White RL, Lawn RM
  Title
Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene.
  Journal
Nature 314:738-40 (1985)
DOI:10.1038/314738a0
Reference
PMID:3001143 (HEMB)
  Authors
Chen SH, Yoshitake S, Chance PF, Bray GL, Thompson AR, Scott CR, Kurachi K
  Title
An intragenic deletion of the factor IX gene in a family with hemophilia B.
  Journal
J Clin Invest 76:2161-4 (1985)
DOI:10.1172/JCI112222
Reference
PMID:20409624 (VWD)
  Authors
Goodeve AC
  Title
The genetic basis of von Willebrand disease.
  Journal
Blood Rev 24:123-34 (2010)
DOI:10.1016/j.blre.2010.03.003
Reference
PMID:2052556 (VWDP)
  Authors
Miller JL, Cunningham D, Lyle VA, Finch CN
  Title
Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease.
  Journal
Proc Natl Acad Sci U S A 88:4761-5 (1991)
DOI:10.1073/pnas.88.11.4761
LinkDB

» Japanese version

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 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
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06535  Efferocytosis
   H00223  Inherited thrombophilia
 Immune system
  nt06514  Coagulation cascade
   H00223  Inherited thrombophilia
Pathway
hsa04610  Complement and coagulation cascades
hsa04611  Platelet activation
hsa04613  Neutrophil extracellular trap formation
hsa04148  Efferocytosis
Network
nt06514 Coagulation cascade
nt06535 Efferocytosis
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]
(THPH13) F8 [HSA:2157] [KO:K03899]
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 301071 616004
Reference
PMID:12787534
  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
Reference
PMID:17024597
  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
PMID:18574041
  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
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:22716977 (THPH1)
  Authors
Miyawaki Y, Suzuki A, Fujita J, Maki A, Okuyama E, Murata M, Takagi A, Murate T, Kunishima S, Sakai M, Okamoto K, Matsushita T, Naoe T, Saito H, Kojima T
  Title
Thrombosis from a prothrombin mutation conveying antithrombin resistance.
  Journal
N Engl J Med 366:2390-6 (2012)
DOI:10.1056/NEJMoa1201994
Reference
PMID:8164741 (THPH2)
  Authors
Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH
  Title
Mutation in blood coagulation factor V associated with resistance to activated protein C.
  Journal
Nature 369:64-7 (1994)
DOI:10.1038/369064a0
Reference
PMID:2437584 (THPH3)
  Authors
Romeo G, Hassan HJ, Staempfli S, Roncuzzi L, Cianetti L, Leonardi A, Vicente V, Mannucci PM, Bertina R, Peschle C, et al.
  Title
Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.
  Journal
Proc Natl Acad Sci U S A 84:2829-32 (1987)
DOI:10.1073/pnas.84.9.2829
Reference
PMID:10942114 (THPH4)
  Authors
Millar DS, Johansen B, Berntorp E, Minford A, Bolton-Maggs P, Wensley R, Kakkar V, Schulman S, Torres A, Bosch N, Cooper DN
  Title
Molecular genetic analysis of severe protein C deficiency.
  Journal
Hum Genet 106:646-53 (2000)
DOI:10.1007/s004390000315
Reference
PMID:7545463 (THPH5)
  Authors
Formstone CJ, Wacey AI, Berg LP, Rahman S, Bevan D, Rowley M, Voke J, Bernardi F, Legnani C, Simioni P, Girolami A, Tuddenham EG, Kakkar VV, Cooper DN
  Title
Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation  screening strategy.
  Journal
Blood 86:2632-41 (1995)
Reference
PMID:10063989 (THPH6)
  Authors
Pung-amritt P, Poort SR, Vos HL, Bertina RM, Mahasandana C, Tanphaichitr VS, Veerakul G, Kankirawatana S, Suvatte V
  Title
Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein S deficiency.
  Journal
Thromb Haemost 81:189-92 (1999)
Reference
PMID:6582486 (THPH7)
  Authors
Koide T, Odani S, Takahashi K, Ono T, Sakuragawa N
  Title
Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability.
  Journal
Proc Natl Acad Sci U S A 81:289-93 (1984)
DOI:10.1073/pnas.81.2.289
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
PMID:2647747 (THPH10)
  Authors
Blinder MA, Andersson TR, Abildgaard U, Tollefsen DM
  Title
Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate.
  Journal
J Biol Chem 264:5128-33 (1989)
DOI:10.1016/S0021-9258(18)83708-5
Reference
PMID:9414276 (THPH11)
  Authors
Shigekiyo T, Yoshida H, Matsumoto K, Azuma H, Wakabayashi S, Saito S, Fujikawa K, Koide T
  Title
HRG Tokushima: molecular and cellular characterization of histidine-rich glycoprotein (HRG) deficiency.
  Journal
Blood 91:128-33 (1998)
DOI:10.1182/blood.V91.1.128
Reference
PMID:22036808 (THPH12)
  Authors
Anastasiou G, Gialeraki A, Merkouri E, Politou M, Travlou A
  Title
Thrombomodulin as a regulator of the anticoagulant pathway: implication in the development of thrombosis.
  Journal
Blood Coagul Fibrinolysis 23:1-10 (2012)
DOI:10.1097/MBC.0b013e32834cb271
Reference
PMID:33275657 (THPH13)
  Authors
Simioni P, Cagnin S, Sartorello F, Sales G, Pagani L, Bulato C, Gavasso S, Nuzzo F, Chemello F, Radu CM, Tormene D, Spiezia L, Hackeng TM, Campello E, Castoldi E
  Title
Partial F8 gene duplication (factor VIII Padua) associated with high factor VIII levels and familial thrombophilia.
  Journal
Blood 137:2383-2393 (2021)
DOI:10.1182/blood.2020008168
LinkDB

» Japanese version

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