Biological Pathway Taxonomy

Last uploaded: March 30, 2022
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Preferred Name

Thrombophilia Hereditary
Synonyms

PathwayType: signaling

PMID: 16968541

Organ_System: cardiovascular system

Tissue: blood

PMID: 21116184

CellType: blood platelet

Notes: Headnote: Thrombophilia is an abnormality of blood coagulation that increases the risk of thrombosis. Thrombophilia can be hereditary or acquired. Signaling description: The most common types of hereditary thrombophilia are those that arise as a result of overactivity of coagulation factors. They are relatively mild, and are therefore classified as "type II" defects. The most common ones are factor V Leiden (a mutation in the F5 gene at position 1691) and prothrombin (F2) G20210A mutation. F5 mutation is present in 5% of the population of Northern European descent, but much rarer in those of Asian or African extraction. In people with thrombosis, 10% have factor V Leiden. F2 mutation occurs at rates of 1-4% in the general population, 5-10% of people with thrombosis. Like F5, this abnormality is uncommon in Africans and Asians. The rare forms of congenital thrombophilia are typically caused by a deficiency of natural anticoagulants. They are classified as "type I" and are more severe in their propensity to cause thrombosis. The main ones are antithrombin III (SERPINC1) deficiency, protein C (PROC) deficiency and protein S (PROS1) deficiency.SERPINC1 deficiency is present in 0.2% of the general population and 0.5-7.5% of people with venous thrombosis. PROC deficiency, too, is present in 0.2% of the population, and can be found in 2.5-6% of people with thrombosis. The exact prevalence of PROS1 deficiency in the population is unknown; it is found 1.3-5% of people with thrombosis. Milder rare congenital thrombophilias are factor XIII (F13A1) mutation and familial dysfibrinogenemia (an abnormal fibrinogen).Mutated genes are shown in white-out style.

Description: Pathway is built manually using published studies.

NodeType: Pathway

Pathway_Author: S. Sozin www.researchgate.net/profile/Sergey-Sozin

Link: https://mammal-profservices.pathwaystudio.com/app/sd?urn=urn:agi-pathway:uuid-d56f2193-4682-461e-9951-2e0b4669fb0e

Source: Diseases
ID

urn:agi-pathway:uuid-d56f2193-4682-461e-9951-2e0b4669fb0e
database_cross_reference

PS:PathwayType

PS:Description

PS:Tissue

PS:Pathway_Author

PS:Link

PS:CellType

PS:Organ_System

PS:PMID

PS:NodeType

PS:Notes

PS:Source
has_exact_synonym

PathwayType: signaling

PMID: 16968541

Organ_System: cardiovascular system

Tissue: blood

PMID: 21116184

CellType: blood platelet

Notes: Headnote: Thrombophilia is an abnormality of blood coagulation that increases the risk of thrombosis. Thrombophilia can be hereditary or acquired. Signaling description: The most common types of hereditary thrombophilia are those that arise as a result of overactivity of coagulation factors. They are relatively mild, and are therefore classified as "type II" defects. The most common ones are factor V Leiden (a mutation in the F5 gene at position 1691) and prothrombin (F2) G20210A mutation. F5 mutation is present in 5% of the population of Northern European descent, but much rarer in those of Asian or African extraction. In people with thrombosis, 10% have factor V Leiden. F2 mutation occurs at rates of 1-4% in the general population, 5-10% of people with thrombosis. Like F5, this abnormality is uncommon in Africans and Asians. The rare forms of congenital thrombophilia are typically caused by a deficiency of natural anticoagulants. They are classified as "type I" and are more severe in their propensity to cause thrombosis. The main ones are antithrombin III (SERPINC1) deficiency, protein C (PROC) deficiency and protein S (PROS1) deficiency.SERPINC1 deficiency is present in 0.2% of the general population and 0.5-7.5% of people with venous thrombosis. PROC deficiency, too, is present in 0.2% of the population, and can be found in 2.5-6% of people with thrombosis. The exact prevalence of PROS1 deficiency in the population is unknown; it is found 1.3-5% of people with thrombosis. Milder rare congenital thrombophilias are factor XIII (F13A1) mutation and familial dysfibrinogenemia (an abnormal fibrinogen).Mutated genes are shown in white-out style.

Description: Pathway is built manually using published studies.

NodeType: Pathway

Pathway_Author: S. Sozin www.researchgate.net/profile/Sergey-Sozin

Link: https://mammal-profservices.pathwaystudio.com/app/sd?urn=urn:agi-pathway:uuid-d56f2193-4682-461e-9951-2e0b4669fb0e

Source: Diseases
id

urn:agi-pathway:uuid-d56f2193-4682-461e-9951-2e0b4669fb0e
label

Thrombophilia Hereditary
notation

uuid-d56f2193-4682-461e-9951-2e0b4669fb0e
prefLabel

Thrombophilia Hereditary
treeView

urn:agi-folder:cardiovascular_system

urn:agi-folder:thrombophilia

urn:agi-folder:t

urn:agi-folder:blood
subClassOf

urn:agi-folder:cardiovascular_system

urn:agi-folder:thrombophilia

urn:agi-folder:t

urn:agi-folder:blood
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