Preferred Label : Coumarin resistance;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Coumarin, poor metabolism of; Warfarin resistance;
Included titles and symbols : Coumarin sensitivity; Warfarin sensitivity;
Description : Warfarin is a widely prescribed anticoagulant for the prevention of thromboembolic
diseases for subjects with deep vein thrombosis, atrial fibrillation, or mechanical
heart valve replacement (Yuan et al., 2005). The dose requirement is highly variable,
both interindividually and interethnically. Variation in the VKORC1 gene is believed
to be the most important individual predictor of warfarin dose, accounting for about
30% of the variance observed in dosing (Ross et al., 2010).;
Inheritance : Autosomal dominant;
Molecular basis : Drug sensitivity conferred by mutation in the cytochrome P450, subfamily IIA, polypeptide
6 gene (CYP2A6, 122720.0001); Drug sensitivity conferred by mutation in the cytochrome P450, subfamily IIC, polypeptide
9 gene (CYP2C9, 601130.0001); Drug sensitivity conferred by mutation in the Vitamin K epoxide reductase complex,
subunit 1 gene (VKORC1, 608547.0002);
Laboratory abnormalities : Warfarin resistance; Warfarin sensitivity;
Prefixed ID : #122700;
Origin ID : 122700;
UMLS CUI : C0750384;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
