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 [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00219  Hemophilia
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
Related
pathway
hsa04610  Complement and coagulation cascades
hsa04611  Platelet activation
hsa04512  ECM-receptor interaction
hsa04613  Neutrophil extracellular trap formation
hsa04640  Hematopoietic cell lineage
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]
Emicizumab [DR:D10821]
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
  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
  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
  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
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