KEGG   DISEASE: 遺伝性血栓性素因
エントリ  
H00223                                                             
名称    
遺伝性血栓性素因
  下位グループ
先天性アンチトロンビン欠損症 [DS:H01381]
先天性異常フィブリノゲン血症 [DS:H00222]
概要    
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.
カテゴリ  
血液疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 03 血液・造血器の疾患
  凝固障害, 紫斑病またはその他の出血性または関連病状
   3B61  血栓性素因
    H00223  遺伝性血栓性素因
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06535  エフェロサイトーシス
   H00223  遺伝性血栓性素因
 免疫系
  nt06514  凝固カスケード
   H00223  遺伝性血栓性素因
指定難病 [jp08407.html]
 H00223
パスウェイ 
hsa04610  Complement and coagulation cascades
hsa04611  Platelet activation
hsa04613  Neutrophil extracellular trap formation
hsa04148  Efferocytosis
ネットワーク
nt06514 Coagulation cascade
nt06535 Efferocytosis
病因遺伝子 
(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]
リンク   
ICD-11: 3B61.0
MeSH: D019851
OMIM: 188050 188055 176860 612304 612336 300807 612356 613116 614486 301071
文献    
  著者
Buchanan GS, Rodgers GM, Ware Branch D
  タイトル
The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation.
  雑誌
Best Pract Res Clin Obstet Gynaecol 17:397-411 (2003)
DOI:10.1016/S1521-6934(03)00010-5
文献    
  著者
Simioni P, Tormene D, Spiezia L, Tognin G, Rossetto V, Radu C, Prandoni P
  タイトル
Inherited thrombophilia and venous thromboembolism.
  雑誌
Semin Thromb Hemost 32:700-8 (2006)
DOI:10.1055/s-2006-951298
文献    
  著者
Dahlback B
  タイトル
Advances in understanding pathogenic mechanisms of thrombophilic disorders.
  雑誌
Blood 112:19-27 (2008)
DOI:10.1182/blood-2008-01-077909
文献    
PMID:31577252 (THPH, FGA, FGB, FGG)
  著者
Dautaj A, Krasi G, Bushati V, Precone V, Gheza M, Fioretti F, Sartori M, Costantini A, Benedetti S, Bertelli M
  タイトル
Hereditary thrombophilia.
  雑誌
Acta Biomed 90:44-46 (2019)
DOI:10.23750/abm.v90i10-S.8758
文献    
PMID:22716977 (THPH1)
  著者
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
  タイトル
Thrombosis from a prothrombin mutation conveying antithrombin resistance.
  雑誌
N Engl J Med 366:2390-6 (2012)
DOI:10.1056/NEJMoa1201994
文献    
PMID:8164741 (THPH2)
  著者
Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH
  タイトル
Mutation in blood coagulation factor V associated with resistance to activated protein C.
  雑誌
Nature 369:64-7 (1994)
DOI:10.1038/369064a0
文献    
PMID:2437584 (THPH3)
  著者
Romeo G, Hassan HJ, Staempfli S, Roncuzzi L, Cianetti L, Leonardi A, Vicente V, Mannucci PM, Bertina R, Peschle C, et al.
  タイトル
Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.
  雑誌
Proc Natl Acad Sci U S A 84:2829-32 (1987)
DOI:10.1073/pnas.84.9.2829
文献    
PMID:10942114 (THPH4)
  著者
Millar DS, Johansen B, Berntorp E, Minford A, Bolton-Maggs P, Wensley R, Kakkar V, Schulman S, Torres A, Bosch N, Cooper DN
  タイトル
Molecular genetic analysis of severe protein C deficiency.
  雑誌
Hum Genet 106:646-53 (2000)
DOI:10.1007/s004390000315
文献    
PMID:7545463 (THPH5)
  著者
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
  タイトル
Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation  screening strategy.
  雑誌
Blood 86:2632-41 (1995)
文献    
PMID:10063989 (THPH6)
  著者
Pung-amritt P, Poort SR, Vos HL, Bertina RM, Mahasandana C, Tanphaichitr VS, Veerakul G, Kankirawatana S, Suvatte V
  タイトル
Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein S deficiency.
  雑誌
Thromb Haemost 81:189-92 (1999)
文献    
PMID:6582486 (THPH7)
  著者
Koide T, Odani S, Takahashi K, Ono T, Sakuragawa N
  タイトル
Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability.
  雑誌
Proc Natl Acad Sci U S A 81:289-93 (1984)
DOI:10.1073/pnas.81.2.289
文献    
PMID:19846852 (THPH8)
  著者
Simioni P, Tormene D, Tognin G, Gavasso S, Bulato C, Iacobelli NP, Finn JD, Spiezia L, Radu C, Arruda VR
  タイトル
X-linked thrombophilia with a mutant factor IX (factor IX Padua).
  雑誌
N Engl J Med 361:1671-5 (2009)
DOI:10.1056/NEJMoa0904377
文献    
PMID:2647747 (THPH10)
  著者
Blinder MA, Andersson TR, Abildgaard U, Tollefsen DM
  タイトル
Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate.
  雑誌
J Biol Chem 264:5128-33 (1989)
DOI:10.1016/S0021-9258(18)83708-5
文献    
PMID:9414276 (THPH11)
  著者
Shigekiyo T, Yoshida H, Matsumoto K, Azuma H, Wakabayashi S, Saito S, Fujikawa K, Koide T
  タイトル
HRG Tokushima: molecular and cellular characterization of histidine-rich glycoprotein (HRG) deficiency.
  雑誌
Blood 91:128-33 (1998)
DOI:10.1182/blood.V91.1.128
文献    
PMID:22036808 (THPH12)
  著者
Anastasiou G, Gialeraki A, Merkouri E, Politou M, Travlou A
  タイトル
Thrombomodulin as a regulator of the anticoagulant pathway: implication in the development of thrombosis.
  雑誌
Blood Coagul Fibrinolysis 23:1-10 (2012)
DOI:10.1097/MBC.0b013e32834cb271
文献    
PMID:33275657 (THPH13)
  著者
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
  タイトル
Partial F8 gene duplication (factor VIII Padua) associated with high factor VIII levels and familial thrombophilia.
  雑誌
Blood 137:2383-2393 (2021)
DOI:10.1182/blood.2020008168
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