MCID: DRG021
MIFTS: 29

Drug Metabolism, Poor, Cyp2c19-Related

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Drug Metabolism, Poor, Cyp2c19-Related

MalaCards integrated aliases for Drug Metabolism, Poor, Cyp2c19-Related:

Name: Drug Metabolism, Poor, Cyp2c19-Related 58
Clopidogrel, Impaired Responsiveness to 58 13
Cyp2c19-Related Poor Drug Metabolism 54 30
Mephenytoin Poor Metabolizer 58
Omeprazole Poor Metabolizer 58
Proguanil Poor Metabolizer 58
Resistance to Clopidogrel 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
drug metabolism, poor, cyp2c19-related:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 609535
Orphanet 60 ORPHA240935
MedGen 43 C1836023
SNOMED-CT via HPO 70 258211005

Summaries for Drug Metabolism, Poor, Cyp2c19-Related

NIH Rare Diseases : 54 CYP2C19-related poor drug metabolism is a condition in which the body is unable to properly process certain types of medications such as clopidogrel, mephenytoin, omeprazole, and/or proguanil. As a result, these medications are less effective in affected people who are treated with them. The condition is caused by changes (mutations) in the CYP2C19 gene and is inherited in an autosomal recessive manner. Specific treatment is generally not necessary as affected people do not have additional signs and symptoms aside from poor drug metabolism. However, medications that are poorly metabolized may need to be prescribed in a modified dose or avoided entirely.

MalaCards based summary : Drug Metabolism, Poor, Cyp2c19-Related, also known as clopidogrel, impaired responsiveness to, is related to clopidogrel resistance and cerebral aneurysms. An important gene associated with Drug Metabolism, Poor, Cyp2c19-Related is CYP2C19 (Cytochrome P450 Family 2 Subfamily C Member 19), and among its related pathways/superpathways are Paroxetine Pathway, Pharmacokinetics and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. The drugs Metronidazole and Mexiletine have been mentioned in the context of this disorder. Affiliated tissues include testes and heart, and related phenotype is Decreased hepcidin::fluc mRNA expression.

Description from OMIM: 609535

Related Diseases for Drug Metabolism, Poor, Cyp2c19-Related

Diseases in the Drug Metabolism, Poor, Cyp2c19-Related family:

Drug Metabolism, Poor, Cyp2d6-Related

Diseases related to Drug Metabolism, Poor, Cyp2c19-Related via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 clopidogrel resistance 31.9 CYP2C19 P2RY12
2 cerebral aneurysms 10.0
3 coronary heart disease 1 9.8
4 heart disease 9.8
5 myocardial infarction 9.5 CYP2C19 P2RY12

Graphical network of the top 20 diseases related to Drug Metabolism, Poor, Cyp2c19-Related:



Diseases related to Drug Metabolism, Poor, Cyp2c19-Related

Symptoms & Phenotypes for Drug Metabolism, Poor, Cyp2c19-Related

Symptoms via clinical synopsis from OMIM:

58
Metabolic Features:
hydantoin toxicity
mephenytoin hydroxylation defect

Clinical features from OMIM:

609535

GenomeRNAi Phenotypes related to Drug Metabolism, Poor, Cyp2c19-Related according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased hepcidin::fluc mRNA expression GR00253-A 8.62 CYP2C19 P2RY12

Drugs & Therapeutics for Drug Metabolism, Poor, Cyp2c19-Related

Drugs for Drug Metabolism, Poor, Cyp2c19-Related (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 55)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metronidazole Approved Not Applicable 443-48-1 4173
2
Mexiletine Approved, Investigational 31828-71-4 4178
3
Phenytoin Approved, Vet_approved 57-41-0 1775
4
Fesoterodine Approved 286930-03-8, 286930-02-7 6918558
5
Clopidogrel Approved 120202-66-6, 113665-84-2 60606
6
Phenobarbital Approved, Investigational 50-06-6 4763
7
Piroxicam Approved, Investigational 36322-90-4 54676228 5280452
8
Celecoxib Approved, Investigational 169590-42-5 2662
9
Ibuprofen Approved 15687-27-1 3672
10
Iloperidone Approved 133454-47-4 71360
11
Oxycodone Approved, Illicit, Investigational 76-42-6 5284603
12
Perphenazine Approved 58-39-9 4748
13
Haloperidol Approved 52-86-8 3559
14
Dextromethorphan Approved 125-71-3 5362449 5360696
15
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
16
Propafenone Approved 54063-53-5 4932
17
Sertraline Approved 79617-96-2 68617
18
Doxepin Approved, Investigational 1668-19-5 667468 667477
19
Indomethacin Approved, Investigational 53-86-1 3715
20
Desipramine Approved, Investigational 50-47-5 2995
21
Fluvoxamine Approved, Investigational 54739-18-3 5324346 3404
22
Esomeprazole Approved, Investigational 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
23
Flurbiprofen Approved, Investigational 5104-49-4 3394
24
Risperidone Approved, Investigational 106266-06-2 5073
25
Clomipramine Approved, Investigational, Vet_approved 303-49-1 2801
26
Omeprazole Approved, Investigational, Vet_approved 73590-58-6 4594
27
Meloxicam Approved, Vet_approved 71125-38-7 54677470 5281106
28
Imipramine Approved 50-49-7 3696
29
Proguanil Approved 500-92-5 4923
30
Hydrocodone Approved, Illicit, Investigational 125-29-1 5284569
31
Nortriptyline Approved 72-69-5 4543
32
Fluoxetine Approved, Vet_approved 54910-89-3 3386
33
Propranolol Approved, Investigational 525-66-6 4946
34
Trimipramine Approved 739-71-9 5584 4055
35
Tramadol Approved, Investigational 27203-92-5 33741
36
Aripiprazole Approved, Investigational 129722-12-9 60795
37
Paroxetine Approved, Investigational 61869-08-7 43815
38
Vortioxetine Approved, Investigational 508233-74-7 9966051
39
Pimozide Approved 2062-78-4 16362
40
Carvedilol Approved, Investigational 72956-09-3 2585
41
Tetrabenazine Approved, Investigational 58-46-8 6018
42
Clozapine Approved 5786-21-0 2818
43
Metoprolol Approved, Investigational 37350-58-6, 51384-51-1 4171
44
Clobazam Approved, Illicit 22316-47-8 2789
45
Amitriptyline Approved 50-48-6 2160
46
Citalopram Approved 59729-33-8 2771
47
Voriconazole Approved, Investigational 137234-62-9 71616
48
Timolol Approved 26839-75-8 5478 33624
49
Codeine Approved, Illicit 76-57-3 5284371
50 Tolterodine tartrate 124937-52-6

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pharmacogenetic Testing Among Home Health Patients Completed NCT02378220 Not Applicable
2 YouScript IMPACT Registry Completed NCT02191358
3 Drug & Gene Interaction Risk Analysis With & Without Genetic Testing Among Patients Undergoing MTM Completed NCT02428660 Not Applicable

Search NIH Clinical Center for Drug Metabolism, Poor, Cyp2c19-Related

Genetic Tests for Drug Metabolism, Poor, Cyp2c19-Related

Genetic tests related to Drug Metabolism, Poor, Cyp2c19-Related:

# Genetic test Affiliating Genes
1 Cyp2c19-Related Poor Drug Metabolism 30 CYP2C19

Anatomical Context for Drug Metabolism, Poor, Cyp2c19-Related

MalaCards organs/tissues related to Drug Metabolism, Poor, Cyp2c19-Related:

42
Testes, Heart

Publications for Drug Metabolism, Poor, Cyp2c19-Related

Articles related to Drug Metabolism, Poor, Cyp2c19-Related:

# Title Authors Year
1
An additional defective allele, CYP2C19*5, contributes to the S-mephenytoin poor metabolizer phenotype in Caucasians. ( 10022751 )
1998

Variations for Drug Metabolism, Poor, Cyp2c19-Related

Expression for Drug Metabolism, Poor, Cyp2c19-Related

Search GEO for disease gene expression data for Drug Metabolism, Poor, Cyp2c19-Related.

Pathways for Drug Metabolism, Poor, Cyp2c19-Related

GO Terms for Drug Metabolism, Poor, Cyp2c19-Related

Sources for Drug Metabolism, Poor, Cyp2c19-Related

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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