MCID: DRG020
MIFTS: 21

Drug Metabolism, Poor, Cyp2d6-Related

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Drug Metabolism, Poor, Cyp2d6-Related

MalaCards integrated aliases for Drug Metabolism, Poor, Cyp2d6-Related:

Name: Drug Metabolism, Poor, Cyp2d6-Related 57
Codeine Sensitivity 57 13
Debrisoquine Sensitivity 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
cyp2d6 enzyme is located in the endoplasmic reticulum of the liver
cyp2d6 represents about 1% of total liver cytochrome p450 content
ultrarapid metabolizers have multiple copies of the cyp2d6 gene


HPO:

31
drug metabolism, poor, cyp2d6-related:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 608902
MedGen 41 C1837154
SNOMED-CT via HPO 68 108369006 258211005 363346000

Summaries for Drug Metabolism, Poor, Cyp2d6-Related

MalaCards based summary : Drug Metabolism, Poor, Cyp2d6-Related, is also known as codeine sensitivity. An important gene associated with Drug Metabolism, Poor, Cyp2d6-Related is CYP2D6 (Cytochrome P450 Family 2 Subfamily D Member 6). The drugs Dopamine and Diphenhydramine have been mentioned in the context of this disorder. Affiliated tissues include liver and lung, and related phenotypes are neoplasm and abnormality of metabolism/homeostasis

More information from OMIM: 608902

Related Diseases for Drug Metabolism, Poor, Cyp2d6-Related

Symptoms & Phenotypes for Drug Metabolism, Poor, Cyp2d6-Related

Human phenotypes related to Drug Metabolism, Poor, Cyp2d6-Related:

31
# Description HPO Frequency HPO Source Accession
1 neoplasm 31 HP:0002664
2 abnormality of metabolism/homeostasis 31 HP:0001939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
association between poor metabolizers (pm) and parkinson disease

Neoplasia:
statistical association of extensive metabolism (em, wildtype) and malignancy, especially smoking-induced lung cancer

Metabolic Features:
pms show impaired metabolism of debrisoquine and related drugs
pms show increased sensitivity to effects of medication

Laboratory Abnormalities:
pms show deficient oxidation of debrisoquine
pms show decreased levels of hepatic cyp2d6 enzyme
pms excrete 10 to 200 times less metabolite in urine than wildtype (em)
pms have increased metabolic ratio of unchanged drug-to-metabolite in urine

Clinical features from OMIM®:

608902 (Updated 05-Apr-2021)

Drugs & Therapeutics for Drug Metabolism, Poor, Cyp2d6-Related

Drugs for Drug Metabolism, Poor, Cyp2d6-Related (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 1 62-31-7, 51-61-6 681
2
Diphenhydramine Approved, Investigational Phase 1 58-73-1, 147-24-0 3100
3
Histamine Approved, Investigational Phase 1 51-45-6, 75614-87-8 774
4
Promethazine Approved, Investigational Phase 1 60-87-7 4927
5
Metoclopramide Approved, Investigational Phase 1 364-62-5 4168
6 Neurotransmitter Agents Phase 1
7 Gastrointestinal Agents Phase 1
8 Hypnotics and Sedatives Phase 1
9 Dopamine Agents Phase 1
10 Anesthetics Phase 1
11 Antiemetics Phase 1
12 Dopamine Antagonists Phase 1
13
Histamine Phosphate Phase 1 51-74-1 65513
14 Anesthetics, Local Phase 1
15 Dermatologic Agents Phase 1
16 Histamine H1 Antagonists Phase 1
17 Histamine Antagonists Phase 1
18 Anti-Allergic Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pharmacogenetic Factors and Side Effects of Metoclopramide and Diphenhydramine Terminated NCT01289938 Phase 1 Diphenhydramine;Metoclopramide

Search NIH Clinical Center for Drug Metabolism, Poor, Cyp2d6-Related

Genetic Tests for Drug Metabolism, Poor, Cyp2d6-Related

Anatomical Context for Drug Metabolism, Poor, Cyp2d6-Related

MalaCards organs/tissues related to Drug Metabolism, Poor, Cyp2d6-Related:

40
Liver, Lung

Publications for Drug Metabolism, Poor, Cyp2d6-Related

Articles related to Drug Metabolism, Poor, Cyp2d6-Related:

(show all 42)
# Title Authors PMID Year
1
Codeine intoxication associated with ultrarapid CYP2D6 metabolism. 57
15625333 2004
2
Further evidence that interactions between CYP2D6 and pesticide exposure increase risk for Parkinson's disease. 57
15174030 2004
3
CYP2D6 polymorphism, pesticide exposure, and Parkinson's disease. 57
14991823 2004
4
A patient with treatment-resistant schizophrenia and cytochrome P4502D6 gene duplication. 57
11940091 2002
5
CYP2D6 ultrarapid metabolizer genotype as a potential modifier of smoking behaviour. 57
10739167 2000
6
Ultrarapid metabolism of clomipramine in a therapy-resistant depressive patient, as confirmed by CYP2 D6 genotyping. 57
9562213 1998
7
Quantification of the O- and N-demethylated and the glucuronidated metabolites of codeine relative to the debrisoquine metabolic ratio in urine in ultrarapid, rapid, and poor debrisoquine hydroxylators. 57
9357098 1997
8
Polymorphisms in drug-metabolizing enzymes: what is their clinical relevance and why do they exist? 57
9012398 1997
9
Cytochrome P450 2D6 variants in a Caucasian population: allele frequencies and phenotypic consequences. 57
9012401 1997
10
Inherited amplification of an active gene in the cytochrome P450 CYP2D locus as a cause of ultrarapid metabolism of debrisoquine. 57
7903454 1993
11
Molecular basis for rational megaprescribing in ultrarapid hydroxylators of debrisoquine. 57
8093319 1993
12
Debrisoquine hydroxylase gene polymorphism and susceptibility to Parkinson's disease. 57
1350805 1992
13
Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism. 57
1673290 1991
14
Impact of environmental and genetic factors on codeine analgesia. 57
1782973 1991
15
Identification of the primary gene defect at the cytochrome P450 CYP2D locus. 57
1978251 1990
16
Lung cancer and the debrisoquine metabolic phenotype. 57
2374176 1990
17
The role of genetically determined polymorphic drug metabolism in the beta-blockade produced by propafenone. 57
1971708 1990
18
Debrisoquine metabolism and genetic predisposition to lung cancer. 57
2736200 1989
19
Racial differences in drug response. Altered sensitivity to and clearance of propranolol in men of Chinese descent as compared with American whites. 57
2536896 1989
20
The distribution of debrisoquine metabolic phenotypes and implications for the suggested association with lung cancer risk. 57
2777072 1989
21
Human debrisoquine 4-hydroxylase (P450IID1): cDNA and deduced amino acid sequence and assignment of the CYP2D locus to chromosome 22. 57
3410476 1988
22
Characterization of the common genetic defect in humans deficient in debrisoquine metabolism. 57
3123997 1988
23
Debrisoquine hydroxylation phenotype, acetylation phenotype, and ABO blood groups as genetic host factors of lung cancer risk. 57
2846954 1988
24
Apparent mendelian recessive inheritance of sparteine metabolism in an extended Japanese family. 57
3169120 1988
25
Chromosomal assignment of human cytochrome P-450 (debrisoquine/sparteine type) to chromosome 22. 57
3472585 1987
26
The genetic polymorphism of sparteine metabolism. 57
3739368 1986
27
The relationship between the acetylator and the sparteine hydroxylation polymorphisms. 57
3712391 1986
28
Ecogenetics of Parkinson's disease: 4-hydroxylation of debrisoquine. 57
2866293 1985
29
Inter-ethnic difference in sparteine oxidation among Ghanaians and Germans. 57
3987789 1985
30
Extremely rapid hydroxylation of debrisoquine: a case report with implication for treatment with nortriptyline and other tricyclic antidepressants. 57
4082245 1985
31
Variability in nifedipine pharmacokinetics and dynamics: a new oxidation polymorphism in man. 57
6508829 1984
32
Oxidation phenotype--a major determinant of metoprolol metabolism and response. 57
7144837 1982
33
Genetic polymorphism of phenformin 4-hydroxylation. 57
7083735 1982
34
The Upjohn Award Lecture 1981/La Conférence Upjohn 1981. The metabolism of xenobiotics in different populations. 57
7039786 1982
35
E- and Z-10-hydroxylation of nortriptyline: relationship to polymorphic debrisoquine hydroxylation. 57
7249504 1981
36
Genetically determined impaired drug sulphoxidation. 57
6110975 1981
37
A family and population study of the genetic polymorphism of debrisoquine oxidation in a white British population. 57
7381862 1980
38
Deficient metabolism of debrisoquine and sparteine. 57
7357813 1980
39
Hypotensive response to debrisoquine and hydroxylation phenotype. 57
642709 1978
40
Polymorphic hydroxylation of Debrisoquine in man. 57
71400 1977
41
Why hypertensive patients vary in their response to oral debrisoquine. 57
837136 1977
42
Codeine sensitivity. 61
14821389 1951

Variations for Drug Metabolism, Poor, Cyp2d6-Related

Expression for Drug Metabolism, Poor, Cyp2d6-Related

Search GEO for disease gene expression data for Drug Metabolism, Poor, Cyp2d6-Related.

Pathways for Drug Metabolism, Poor, Cyp2d6-Related

GO Terms for Drug Metabolism, Poor, Cyp2d6-Related

Sources for Drug Metabolism, Poor, Cyp2d6-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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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