MCID: CMR002
MIFTS: 37

Coumarin Resistance malady

Genetic diseases (common) category

Aliases & Classifications for Coumarin Resistance

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Sources:
46OMIM, 9diseasecard, 61UMLS, 44Novoseek
See all sources

Aliases & Descriptions for Coumarin Resistance:

Name: Coumarin Resistance 46 9 61
Warfarin Sensitivity 46 61
 
Warfarin Resistance 46 44


Classifications:



External Ids:

OMIM46 122700

Summaries for Coumarin Resistance

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OMIM:46 Warfarin is a widely prescribed anticoagulant for the prevention of thromboembolic diseases for subjects with deep vein... (122700) more...

MalaCards based summary: Coumarin Resistance, also known as warfarin sensitivity, is related to hemorrhagic disease and short bowel syndrome, and has symptoms including autosomal dominant inheritance, abnormality of blood and blood-forming tissues and abnormality of metabolism/homeostasis. An important gene associated with Coumarin Resistance is VKORC1 (vitamin K epoxide reductase complex, subunit 1), and among its related pathways are PTM- gamma carboxylation, hypusine formation and arylsulfatase activation and Retinol metabolism. The compounds r-warfarin and vitamin k epoxide have been mentioned in the context of this disorder. Affiliated tissues include heart.

Related Diseases for Coumarin Resistance

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Diseases related to Coumarin Resistance via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1hemorrhagic disease10.3F9
2short bowel syndrome10.2
3prostate cancer10.1
4merkel cell carcinoma10.1
5disseminated intravascular coagulation10.1
6prostatitis10.1
7myocardial infarction10.1
8priapism10.1
9herpes simplex10.0F9, CYP2A6
10liver cirrhosis9.9F9, CYP2A6
11thrombophilia due to thrombin defect9.8F9, CYP2C9
12factor v leiden thrombophilia9.7F9, CYP2C9, VKORC1
13hepatitis9.7F9, CYP2A6, CYP2C9
14stroke, ischemic9.7VKORC1, CYP2C9, F9
15galactosemia9.7CYP2C9, F9, CYP2A6

Graphical network of diseases related to Coumarin Resistance:



Diseases related to coumarin resistance

Symptoms for Coumarin Resistance

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Symptoms by clinical synopsis from OMIM:

122700

Clinical features from OMIM:

122700

HPO human phenotypes related to Coumarin Resistance:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 abnormality of blood and blood-forming tissues HP:0001871
3 abnormality of metabolism/homeostasis HP:0001939

Drugs & Therapeutics for Coumarin Resistance

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Drug clinical trials:

Search ClinicalTrials for Coumarin Resistance

Search NIH Clinical Center for Coumarin Resistance

Genetic Tests for Coumarin Resistance

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Anatomical Context for Coumarin Resistance

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MalaCards organs/tissues related to Coumarin Resistance:

31
Heart

Animal Models for Coumarin Resistance or affiliated genes

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Publications for Coumarin Resistance

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Articles related to Coumarin Resistance:

idTitleAuthorsYear
1
gyrB mutations which confer coumarin resistance also affect DNA supercoiling and ATP hydrolysis by Escherichia coli DNA gyrase. (1323022)
1992
2
Coumarin resistance: a diagnostic and therapeutic approach. (910171)
1977
3
Coumarin resistance in a Negro woman. (4123117)
1973

Variations for Coumarin Resistance

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UniProtKB/Swiss-Prot genetic disease variations for Coumarin Resistance:

63 (show all 18)
id Symbol AA change Variation ID SNP ID
1VKORC1p.Val29LeuVAR_021821rs104894539
2VKORC1p.Val45AlaVAR_021822rs104894540
3VKORC1p.Arg58GlyVAR_021823rs104894541
4VKORC1p.Leu128ArgVAR_021825rs104894542
5VKORC1p.Ala26ThrVAR_065785
6VKORC1p.Asp36GlyVAR_065786
7VKORC1p.Asp36TyrVAR_065787
8VKORC1p.Ser52TrpVAR_065788
9VKORC1p.Ser56PheVAR_065789
10VKORC1p.Trp59CysVAR_065790
11VKORC1p.Trp59LeuVAR_065791
12VKORC1p.Val66GlyVAR_065792
13VKORC1p.Val66MetVAR_065793rs72547529
14VKORC1p.Gly71AlaVAR_065794
15VKORC1p.Asn77SerVAR_065795
16VKORC1p.Asn77TyrVAR_065796
17VKORC1p.Ile123AsnVAR_065797
18VKORC1p.Tyr139HisVAR_065798

Clinvar genetic disease variations for Coumarin Resistance:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1F9F9, ALA-10THRsingle nucleotide variantPathogenic
2F9F9, ALA-10VALundetermined variantPathogenic
3CYP2A6NM_000762.5(CYP2A6): c.479T> A (p.Leu160His)single nucleotide variantPathogenicrs1801272GRCh37Chr 19, 41354533: 41354533
4CYP2A6CYP2A6*12AdeletionPathogenic
5VKORC1NM_024006.4(VKORC1): c.85G> T (p.Val29Leu)single nucleotide variantPathogenicrs104894539GRCh37Chr 16, 31105966: 31105966
6VKORC1NM_024006.4(VKORC1): c.134T> C (p.Val45Ala)single nucleotide variantPathogenicrs104894540GRCh37Chr 16, 31105917: 31105917
7VKORC1NM_024006.4(VKORC1): c.172A> G (p.Arg58Gly)single nucleotide variantPathogenicrs104894541GRCh37Chr 16, 31105879: 31105879
8VKORC1NM_024006.4(VKORC1): c.383T> G (p.Leu128Arg)single nucleotide variantPathogenicrs104894542GRCh37Chr 16, 31102564: 31102564
9VKORC1NM_024006.4(VKORC1): c.-1639G> Asingle nucleotide variantdrug responsers9923231GRCh37Chr 16, 31107689: 31107689
10VKORC1NM_024006.4(VKORC1): c.106G> T (p.Asp36Tyr)single nucleotide variantPathogenicrs61742245GRCh37Chr 16, 31105945: 31105945
11VKORC1NM_024006.4(VKORC1): c.174-136C> Tsingle nucleotide variantdrug responsers9934438GRCh37Chr 16, 31104878: 31104878
12NM_024006.4(VKORC1): c.-1588dupGduplicationdrug responsers397509427GRCh37Chr 16, 31107637: 31107638
13CYP2C9NM_000771.3(CYP2C9): c.1075A> C (p.Ile359Leu)single nucleotide variantdrug responsers1057910GRCh37Chr 10, 96741053: 96741053
14CYP2C9NM_000771.3(CYP2C9): c.430C> T (p.Arg144Cys)single nucleotide variantconfers sensitivityrs1799853GRCh37Chr 10, 96702047: 96702047
15CYP2C9NM_000771.3(CYP2C9): c.622T> G (p.Leu208Val)single nucleotide variantPathogenicrs72558191GRCh37Chr 10, 96707676: 96707676

Expression for genes affiliated with Coumarin Resistance

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Search GEO for disease gene expression data for Coumarin Resistance.

Pathways for genes affiliated with Coumarin Resistance

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Pathways related to Coumarin Resistance according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5F9, VKORC1
2
Show member pathways
Retinol metabolism59
9.1CYP2C9, CYP2A6
3
Show member pathways
9.1CYP2C9, CYP2A6
4
Show member pathways
9.1CYP2C9, CYP2A6
59.1CYP2C9, CYP2A6
69.1CYP2C9, CYP2A6
79.1CYP2C9, CYP2A6
8
Show member pathways
9.1CYP2C9, CYP2A6

Compounds for genes affiliated with Coumarin Resistance

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Sources:
44Novoseek, 11DrugBank, 50PharmGKB, 28IUPHAR, 1BitterDB, 24HMDB
See all sources

Compounds related to Coumarin Resistance according to GeneCards Suite gene sharing:

(show top 50)    (show all 142)
idCompoundScoreTop Affiliating Genes
1r-warfarin449.9VKORC1, CYP2A6
2vitamin k epoxide449.6VKORC1, CYP2C9
3sparteine44 1110.6CYP2C9, CYP2A6
4s-warfarin449.6CYP2A6, CYP2C9
5thiophene449.6CYP2A6, CYP2C9
6tienilic acid449.6CYP2A6, CYP2C9
7vortioxetine509.5CYP2C9, CYP2A6
87-ethoxy-4-trifluoromethylcoumarin449.5CYP2A6, CYP2C9
9esomeprazole44 50 1111.5CYP2C9, CYP2A6
10dexlansoprazole509.5CYP2A6, CYP2C9
11furafylline449.5CYP2A6, CYP2C9
12sulfaphenazole44 1110.5CYP2A6, CYP2C9
13flunarizine44 1110.5CYP2A6, CYP2C9
14formoterol44 28 1111.5CYP2A6, CYP2C9
15amodiaquine44 50 1111.5CYP2C9, CYP2A6
16mephenytoin44 50 1111.5CYP2A6, CYP2C9
17tranylcypromine44 1110.5CYP2A6, CYP2C9
18bufuralol44 1110.5CYP2A6, CYP2C9
19eletriptan28 44 1111.5CYP2A6, CYP2C9
20sulfinpyrazone44 1110.5CYP2C9, CYP2A6
21nilvadipine44 1110.5CYP2C9, CYP2A6
22debrisoquine44 5010.5CYP2A6, CYP2C9
23phenacetin44 1110.5CYP2A6, CYP2C9
24methoxyflurane50 44 1111.4CYP2C9, CYP2A6
25orphenadrine1 44 1111.4CYP2A6, CYP2C9
26troleandomycin44 1110.4CYP2A6, CYP2C9
27alpha-naphthoflavone449.4CYP2C9, CYP2A6
28menadione44 24 1111.4VKORC1, CYP2A6, F9
29dextromethorphan1 50 24 1112.4CYP2A6, CYP2C9
30hexobarbital44 1110.4CYP2C9, CYP2A6
31promazine44 1110.4CYP2C9, CYP2A6
32ethoxyresorufin449.4CYP2C9, CYP2A6
33flunitrazepam28 44 1111.3CYP2C9, CYP2A6
343-methylcholanthrene449.3CYP2A6, CYP2C9
35cisapride44 28 1111.3CYP2A6, CYP2C9
36lauric acid44 2810.2CYP2C9, CYP2A6
37efavirenz44 50 1111.2CYP2A6, CYP2C9
38itraconazole44 1110.1CYP2C9, CYP2A6
39tretinoin50 1110.1CYP2A6, CYP2C9
40acenocoumarol44 50 1111.1F9, CYP2C9, VKORC1
41phenprocoumon44 50 1111.1VKORC1, CYP2C9, F9
42epoxide449.1CYP2A6, CYP2C9, VKORC1
43acetaminophen44 1 50 24 1113.0CYP2C9, CYP2A6, F9
44azelastine44 1110.0CYP2A6, CYP2C9
45cyclophosphamide44 50 1111.0CYP2A6, CYP2C9, F9
46phenobarbital44 28 50 1111.9CYP2A6, CYP2C9, CYP2A
47lactone448.8CYP2C9, CYP2A6
48coumarins448.6CYP2A6, VKORC1, F9, CYP2C9
49warfarin44 50 24 1111.6F9, CYP2A6, CYP2C9, VKORC1
50coumarin44 1 50 2411.0CYP2A6, VKORC1, CYP2A, CYP2C9, F9

GO Terms for genes affiliated with Coumarin Resistance

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Cellular components related to Coumarin Resistance according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057898.7VKORC1, CYP2C9, CYP2A6

Biological processes related to Coumarin Resistance according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1peptidyl-glutamic acid carboxylationGO:00171879.5F9, VKORC1
2post-translational protein modificationGO:00436879.5VKORC1, F9
3exogenous drug catabolic processGO:00427389.2CYP2C9, CYP2A6
4steroid metabolic processGO:00082029.0CYP2C9, CYP2A6
5xenobiotic metabolic processGO:00068058.8CYP2C9, CYP2A6
6drug metabolic processGO:00171448.8VKORC1, CYP2C9, CYP2A6

Molecular functions related to Coumarin Resistance according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:00055069.1CYP2C9, CYP2A6
2heme bindingGO:00200378.8CYP2C9, CYP2A6

Sources for Coumarin Resistance

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet