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Defects of Coagulation cascade
Stable Identifier
R-HSA-9769726
Type
Pathway
Species
Homo sapiens
ReviewStatus
3/5
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Disease (Homo sapiens)
Diseases of hemostasis (Homo sapiens)
Defects of Coagulation cascade (Homo sapiens)
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The Reactome module describes disorders that can cause abnormal bleeding due to a shortage (deficiency) of coagulation factor proteins, which are involved in blood clotting. This module also describes elevation of FIX, FV activities associated with thrombophilia. Genetic variants are named following Human Genome Variation Society (HGVS) nomenclature with sequence numbering starting from the first methionine of the protein as +1 (Goodeve AC et al.2011).
Participants
Events
Defective factor VIII causes hemophilia A
(Homo sapiens)
Defective factor IX causes hemophilia B
(Homo sapiens)
Defective factor IX causes thrombophilia
(Homo sapiens)
Defective ANO6 does not expose PS, PE on the platelet membrane
(Homo sapiens)
Defective FV causes thrombophilia
(Homo sapiens)
Aggregated β-amyloid interacts with fibrinogen
(Homo sapiens)
Participates
as an event of
Diseases of hemostasis (Homo sapiens)
Disease
Name
Identifier
Synonyms
thrombosis
DOID:0060903
thrombophilia
DOID:2452
hypercoagulability state
factor VIII deficiency
DOID:12134
Congenital factor VIII disorder, Subhemophilia, Hemophilia A
hemophilia B
DOID:12259
factor IX deficiency, Congenital factor IX deficiency, deficiency, functional factor IX, Congenital factor IX disorder
Cross References
Mondo
0010604
Authored
Shamovsky, V (2022-03-22)
Created
Shamovsky, V (2022-03-22)
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