Details of Disease

General Information of Disease (ID: DIST6SYL)

Disease Name Thrombophilia due to activated protein C resistance
Synonyms
resistance, APC; thrombophilia 5; thrombophilia, susceptibility to, due to factor V Leiden; Pccf deficiency; thrombophilia due to ACTIVATED PROTEIN C resistance; Activated Protein C resistance; thrombophilia due to deficiency of Activated Protein C cofactor; thrombophilia due to Factor 5 Leiden; Proc cofactor deficiency; THPH2; APC resistance; thrombophilia 2 due to activated protein C resistance; thrombophilia due to activated protein C resistance
Definition
A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.
Disease Hierarchy
DISEXNCF: Coagulation protein disease
DISFG8KS: Inherited thrombophilia
DIST6SYL: Thrombophilia due to activated protein C resistance
Disease Identifiers
MONDO ID
MONDO_0008560
MESH ID
C566056
UMLS CUI
C1861171
OMIM ID
188055
MedGen ID
396074

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
F5 TT1O264 Definitive Autosomal dominant [1]
F5 TT1O264 Definitive Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
F5 OTDMZ3LT Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Association of FV G1691A Polymorphism but not A4070G With Coronary Artery Disease.Clin Appl Thromb Hemost. 2018 Mar;24(2):330-337. doi: 10.1177/1076029617744320. Epub 2017 Nov 27.