H00219 | |
H number | H00219 |
Name | Hemophilia |
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 |
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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
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] Valoctocogene roxaparvovec [DR:D12434] Etranacogene dezaparvovec [DR:D12500] |
Comment | - |
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 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 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 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 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 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 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 |