MCID: DRG020
MIFTS: 23

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 Dopamine and Metoclopramide have been mentioned in the context of this disorder. Affiliated tissues include liver, testes 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
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
2
Metoclopramide Approved, Investigational Phase 1 364-62-5 4168
3
Diphenhydramine Approved, Investigational Phase 1 147-24-0, 58-73-1 3100
4
Histamine Approved, Investigational Phase 1 75614-87-8, 51-45-6 774
5
Promethazine Approved, Investigational Phase 1 60-87-7 4927
6
Histamine Phosphate Phase 1 51-74-1 65513
7 Central Nervous System Depressants Phase 1
8 Gastrointestinal Agents Phase 1
9 Neurotransmitter Agents Phase 1
10 Histamine Antagonists Phase 1
11 Histamine H1 Antagonists Phase 1
12 Anesthetics Phase 1
13 Dermatologic Agents Phase 1
14 Anesthetics, Local Phase 1
15 Anti-Allergic Agents Phase 1
16 Dopamine Agents Phase 1
17 Dopamine Antagonists Phase 1
18 Dopamine D2 Receptor Antagonists Phase 1
19 Peripheral Nervous System Agents Phase 1
20 Hypnotics and Sedatives Phase 1
21 Antiemetics Phase 1
22 Antipruritics Phase 1
23 Autonomic Agents Phase 1
24
Propafenone Approved 54063-53-5 4932
25
Clopidogrel Approved 120202-66-6, 113665-84-2 60606
26
Mexiletine Approved, Investigational 31828-71-4 4178
27
Sertraline Approved 79617-96-2 68617
28
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
29
Celecoxib Approved, Investigational 169590-42-5 2662
30
Imipramine Approved 50-49-7 3696
31
Clobazam Approved, Illicit 22316-47-8 2789
32
Esomeprazole Approved, Investigational 161796-78-7, 119141-88-7 4594 9579578
33
Voriconazole Approved, Investigational 137234-62-9 71616
34
Meloxicam Approved, Vet_approved 71125-38-7 5281106 54677470
35
Omeprazole Approved, Investigational, Vet_approved 73590-58-6 4594
36
Clozapine Approved 5786-21-0 2818
37
Trimipramine Approved 739-71-9 5584 4055
38
Timolol Approved 26839-75-8 33624 5478
39
Hydrocodone Approved, Illicit 125-29-1 5284569
40
Nortriptyline Approved 72-69-5 4543
41
Tramadol Approved, Investigational 27203-92-5 33741
42
Phenytoin Approved, Vet_approved 57-41-0 1775
43
Desipramine Approved, Investigational 50-47-5 2995
44
Proguanil Approved 500-92-5 4923
45
Risperidone Approved, Investigational 106266-06-2 5073
46
Amitriptyline Approved 50-48-6 2160
47
Pimozide Approved 2062-78-4 16362
48
Clomipramine Approved, Investigational, Vet_approved 303-49-1 2801
49
Phenobarbital Approved, Investigational 50-06-6 4763
50
Metronidazole Approved Not Applicable 443-48-1 4173

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, Testes, Lung

Publications for Drug Metabolism, Poor, Cyp2d6-Related

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

# Title Authors Year
1
Central and peripheral mechanisms of narcotic antitussives: codeine-sensitive and -resistant coughs. ( 17620111 )
2007
2
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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