thrombophilia due to activated protein C resistance
Findings
No curated finding names thrombophilia due to activated protein C resistance yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008560), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- F5HGNC:3542
- Definitive · ClinGen · Autosomal dominant · 2019
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: thrombophilia due to activated protein C resistance
- Also called
- thrombophilia 2 due to activated protein C resistance