MCID: DRG021
MIFTS: 27

Drug Metabolism, Poor, Cyp2c19-Related

Categories: Genetic diseases, Rare diseases, Metabolic diseases

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

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

Name: Drug Metabolism, Poor, Cyp2c19-Related 57
Clopidogrel, Impaired Responsiveness to 57 13
Cyp2c19-Related Poor Drug Metabolism 53 29
Mephenytoin Poor Metabolizer 57
Omeprazole Poor Metabolizer 57
Proguanil Poor Metabolizer 57
Resistance to Clopidogrel 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
drug metabolism, poor, cyp2c19-related:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 609535
Orphanet 59 ORPHA240935
MedGen 42 C1836023
SNOMED-CT via HPO 69 258211005

Summaries for Drug Metabolism, Poor, Cyp2c19-Related

NIH Rare Diseases : 53 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 myocardial infarction. 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 Imipramine/Desipramine Pathway, Pharmacokinetics and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. The drugs Metronidazole and Amitriptyline have been mentioned in the context of this disorder. Affiliated tissues include testes, 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 31.0 CYP2C19 P2RY12
2 myocardial infarction 9.0 CYP2C19 P2RY12

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

Symptoms via clinical synopsis from OMIM:

57
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:

26
# 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 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metronidazole Approved Not Applicable 443-48-1 4173
2
Amitriptyline Approved 50-48-6 2160
3
Aripiprazole Approved, Investigational 129722-12-9 60795
4
Carvedilol Approved, Investigational 72956-09-3 2585
5
Celecoxib Approved, Investigational 169590-42-5 2662
6
Citalopram Approved 59729-33-8 2771
7
Clobazam Approved, Illicit 22316-47-8 2789
8
Clomipramine Approved, Investigational, Vet_approved 303-49-1 2801
9
Clopidogrel Approved 120202-66-6, 113665-84-2 60606
10
Clozapine Approved 5786-21-0 2818
11
Codeine Approved, Illicit 76-57-3 5284371
12
Desipramine Approved, Investigational 50-47-5 2995
13
Dextromethorphan Approved 125-71-3 5360696 5362449
14
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
15
Doxepin Approved, Investigational 1668-19-5 667477 667468
16
Esomeprazole Approved, Investigational 161796-78-7, 119141-88-7 4594 9579578
17
Fesoterodine Approved 286930-03-8, 286930-02-7 6918558
18
Fluoxetine Approved, Vet_approved 54910-89-3 3386
19
Flurbiprofen Approved, Investigational 5104-49-4 3394
20
Fluvoxamine Approved, Investigational 54739-18-3 3404 5324346
21
Haloperidol Approved 52-86-8 3559
22
Hydrocodone Approved, Illicit 125-29-1 5284569
23
Ibuprofen Approved 15687-27-1 3672
24
Imipramine Approved 50-49-7 3696
25
Indomethacin Approved, Investigational 53-86-1 3715
26
Meloxicam Approved, Vet_approved 71125-38-7 5281106 54677470
27
Metoprolol Approved, Investigational 37350-58-6, 51384-51-1 4171
28
Mexiletine Approved, Investigational 31828-71-4 4178
29
Nortriptyline Approved 72-69-5 4543
30
Omeprazole Approved, Investigational, Vet_approved 73590-58-6 4594
31
Oxycodone Approved, Illicit, Investigational 76-42-6 5284603
32
Paroxetine Approved, Investigational 61869-08-7 43815
33
Perphenazine Approved 58-39-9 4748
34
Phenobarbital Approved, Investigational 50-06-6 4763
35
Phenytoin Approved, Vet_approved 57-41-0 1775
36
Pimozide Approved 2062-78-4 16362
37
Piroxicam Approved, Investigational 36322-90-4 5280452 54676228
38
Proguanil Approved 500-92-5 4923
39
Propafenone Approved 54063-53-5 4932
40
Propranolol Approved, Investigational 525-66-6 4946
41
Risperidone Approved, Investigational 106266-06-2 5073
42
Sertraline Approved 79617-96-2 68617
43
Tetrabenazine Approved, Investigational 58-46-8 6018
44
Timolol Approved 26839-75-8 33624 5478
45
Tramadol Approved, Investigational 27203-92-5 33741
46
Trimipramine Approved 739-71-9 5584 4055
47
Voriconazole Approved, Investigational 137234-62-9 71616
48
Vortioxetine Approved, Investigational 508233-74-7 9966051
49 Amitriptyline, perphenazine drug combination
50 Atomoxetine Hydrochloride

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 29 CYP2C19

Anatomical Context for Drug Metabolism, Poor, Cyp2c19-Related

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

41
Testes

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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