COUMARIN RESISTANCE

General Information (adopted from Orphanet):

Synonyms, Signs: COUMARIN, POOR METABOLISM OF
WARFARIN RESISTANCE COUMARIN SENSITIVITY, INCLUDED
WARFARIN SENSITIVITY, INCLUDED
Number of Symptoms 5
OrphanetNr:
OMIM Id: 122700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001871) Abnormality of blood and blood-forming tissues 37 / 7739
2
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
3
(OMIM) Decreased affinity of liver receptors for coumarin 1 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Warfarin resistance 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM O'Reilly et al. (1964) described resistance to the hypoprothrombinemic effects of coumarin drugs in 7 persons in 3 generations of a family with no male-to-male transmission. They postulated that an autosomal gene is responsible for the synthesis of ...
Molecular genetics OMIM Rost et al. (2004) identified 4 different heterozygous mutations in the VKORC1 gene (608547.0002-608547.0005), encoding vitamin K epoxide reductase, in individuals with warfarin resistance.

In 45 patients, Shikata et al. (2004) analyzed mutations of 7 genes ...

Population genetics OMIM In an editorial, Shurin and Nabel (2007) noted that evidence from various clinical and population studies suggested that patients of Asian, European, and African ancestry require, on average, lower, intermediate, and higher doses of warfarin, respectively. They suggested ...