MCID: DRG021
MIFTS: 18

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 57
Cyp2c19-Related Poor Drug Metabolism 20 29 6
Clopidogrel, Impaired Responsiveness to 57 13
Mephenytoin Poor Metabolizer 57
Omeprazole Poor Metabolizer 57
Proguanil Poor Metabolizer 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
drug metabolism, poor, cyp2c19-related:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 609535
MedGen 41 C1836023
SNOMED-CT via HPO 68 258211005

Summaries for Drug Metabolism, Poor, Cyp2c19-Related

GARD : 20 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 cyp2c19-related poor drug metabolism, is related to clopidogrel resistance. An important gene associated with Drug Metabolism, Poor, Cyp2c19-Related is CYP2C19 (Cytochrome P450 Family 2 Subfamily C Member 19).

More information from OMIM: 609535

Related Diseases for Drug Metabolism, Poor, Cyp2c19-Related

Diseases in the Drug Metabolism, Poor, Cyp2d6-Related family:

Drug Metabolism, Poor, Cyp2c19-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 11.5

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Metabolic Features:
hydantoin toxicity
mephenytoin hydroxylation defect

Clinical features from OMIM®:

609535 (Updated 20-May-2021)

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

Search Clinical Trials , 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

Publications for Drug Metabolism, Poor, Cyp2c19-Related

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

(show all 20)
# Title Authors PMID Year
1
CYP2C19 genotype and outcomes of clopidogrel treatment. 57
21288102 2011
2
CYP2C19 genotype and outcomes of clopidogrel treatment. 57
21288101 2011
3
Effects of CYP2C19 genotype on outcomes of clopidogrel treatment. 57
20979470 2010
4
Cytochrome P450 2C19 loss-of-function polymorphism, but not CYP3A4 IVS10 + 12G/A and P2Y12 T744C polymorphisms, is associated with response variability to dual antiplatelet treatment in high-risk vascular patients. 57
18004210 2007
5
Racial differences in the response to drugs--pointers to genetic differences. 57
11336055 2001
6
Molecular basis of ethnic differences in drug disposition and response. 57
11264478 2001
7
Effect of genetic differences in omeprazole metabolism on cure rates for Helicobacter pylori infection and peptic ulcer. 57
9867757 1998
8
High frequencies of CYP2C19 mutations and poor metabolism of proguanil in Vanuatu. 57
9093256 1997
9
The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans. 57
8195181 1994
10
Polymorphic hydroxylation of S-mephenytoin and omeprazole metabolism in Caucasian and Chinese subjects. 57
1302040 1992
11
Genetic polymorphism of human cytochrome P-450 (S)-mephenytoin 4-hydroxylase. Studies with human autoantibodies suggest a functionally altered cytochrome P-450 isozyme as cause of the genetic deficiency. 57
3442670 1987
12
Family studies of mephenytoin hydroxylation deficiency. 57
3717162 1986
13
The genetic defect of mephenytoin hydroxylation. 57
3739364 1986
14
Pharmacogenetics of mephenytoin: a new drug hydroxylation polymorphism in man. 57
6489416 1984
15
An additional defective allele, CYP2C19*5, contributes to the S-mephenytoin poor metabolizer phenotype in Caucasians. 61
10022751 1998
16
Reappraisal of human CYP isoforms involved in imipramine N-demethylation and 2-hydroxylation: a study using microsomes obtained from putative extensive and poor metabolizers of S-mephenytoin and eleven recombinant human CYPs. 61
9190854 1997
17
Frequencies of the defective CYP2C19 alleles responsible for the mephenytoin poor metabolizer phenotype in various Oriental, Caucasian, Saudi Arabian and American black populations. 61
9110363 1997
18
Genetic analysis of the CYP2D locus in relation to debrisoquine hydroxylation capacity in Korean, Japanese and Chinese subjects. 61
7550367 1995
19
Omeprazole does not enhance the metabolism of phenacetin, a marker of CYP1A2 activity, in healthy volunteers. 61
8085279 1994
20
Sparteine and mephenytoin oxidation: genetic polymorphisms in east and west Greenland. 61
2060251 1991

Variations for Drug Metabolism, Poor, Cyp2c19-Related

ClinVar genetic disease variations for Drug Metabolism, Poor, Cyp2c19-Related:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP2C19 NM_000769.4(CYP2C19):c.1137C>A (p.Tyr379Ter) SNV Pathogenic 1030890 GRCh37: 10:96602769-96602769
GRCh38: 10:94843012-94843012
2 CYP2C19 NM_000769.1(CYP2C19):c.1A>G (p.Met1Val) SNV Pathogenic 16900 rs28399504 GRCh37: 10:96522463-96522463
GRCh38: 10:94762706-94762706
3 CYP2C19 NM_000769.4(CYP2C19):c.1473A>C (p.Ter491Cys) SNV Pathogenic 633853 rs55640102 GRCh37: 10:96612671-96612671
GRCh38: 10:94852914-94852914

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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