MCID: DRG020
MIFTS: 20

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
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:

32
drug metabolism, poor, cyp2d6-related:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 608902
MedGen 42 C1837154
SNOMED-CT via HPO 69 258211005 108369006 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 Metoclopramide and Diphenhydramine have been mentioned in the context of this disorder. Affiliated tissues include liver and lung, and related phenotypes are abnormality of metabolism/homeostasis and neoplasm

Description from OMIM: 608902

Related Diseases for Drug Metabolism, Poor, Cyp2d6-Related

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

Drug Metabolism, Poor, Cyp2d6-Related

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 neoplasm 32 HP:0002664

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

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

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metoclopramide Approved, Investigational Phase 1 364-62-5 4168
2
Diphenhydramine Approved, Investigational Phase 1 147-24-0, 58-73-1 3100
3
Promethazine Approved, Investigational Phase 1 60-87-7 4927
4
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
5
Histamine Approved, Investigational Phase 1 51-45-6, 75614-87-8 774
6 Dopamine D2 Receptor Antagonists Phase 1
7 Peripheral Nervous System Agents Phase 1
8 Anti-Allergic Agents Phase 1
9 Anesthetics, Local Phase 1
10 Dopamine Agents Phase 1
11 Hypnotics and Sedatives Phase 1
12 Gastrointestinal Agents Phase 1
13
Histamine Phosphate Phase 1 51-74-1 65513
14 Dermatologic Agents Phase 1
15 Dopamine Antagonists Phase 1
16 Autonomic Agents Phase 1
17 Antiemetics Phase 1
18 Anesthetics Phase 1
19 Antipruritics Phase 1
20 Histamine H1 Antagonists Phase 1
21 Neurotransmitter Agents Phase 1
22 Central Nervous System Depressants Phase 1
23 Histamine Antagonists Phase 1
24
Metronidazole Approved Not Applicable 443-48-1 4173
25
Fesoterodine Approved 286930-03-8, 286930-02-7 6918558
26
Fluvoxamine Approved, Investigational 54739-18-3 3404 5324346
27
Paroxetine Approved, Investigational 61869-08-7 43815
28
Piroxicam Approved, Investigational 36322-90-4 54676228 5280452
29
Citalopram Approved 59729-33-8 2771
30
Proguanil Approved 500-92-5 4923
31
Omeprazole Approved, Investigational, Vet_approved 73590-58-6 4594
32
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
33
Tramadol Approved, Investigational 27203-92-5 33741
34
Nortriptyline Approved 72-69-5 4543
35
Imipramine Approved 50-49-7 3696
36
Desipramine Approved, Investigational 50-47-5 2995
37
Doxepin Approved, Investigational 1668-19-5 667477 667468
38
Pimozide Approved 2062-78-4 16362
39
Voriconazole Approved, Investigational 137234-62-9 71616
40
Dextromethorphan Approved 125-71-3 5360696 5362449
41
Oxycodone Approved, Illicit, Investigational 76-42-6 5284603
42
Amitriptyline Approved 50-48-6 2160
43
Sertraline Approved 79617-96-2 68617
44
Haloperidol Approved 52-86-8 3559
45
Hydrocodone Approved, Illicit, Investigational 125-29-1 5284569
46
Metoprolol Approved, Investigational 37350-58-6, 51384-51-1 4171
47
Meloxicam Approved, Vet_approved 71125-38-7 54677470 5281106
48
Tetrabenazine Approved, Investigational 58-46-8 6018
49
Clopidogrel Approved 113665-84-2, 120202-66-6 60606
50
Codeine Approved, Illicit 76-57-3 5284371

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
2 Pharmacogenetic Testing Among Home Health Patients Completed NCT02378220 Not Applicable
3 YouScript IMPACT Registry Completed NCT02191358
4 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, 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:

41
Liver, Lung

Publications for Drug Metabolism, Poor, Cyp2d6-Related

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

# Title Authors Year
1
Codeine sensitivity. ( 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 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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