Drug metabolism, poor, cyp2d6-related

Preferred Label : Drug metabolism, poor, cyp2d6-related;

Type : Phenotype, molecular basis known;

Included titles and symbols : Drug metabolism, ultrarapid, cyp2d6-related; Debrisoquine, poor metabolism of; Debrisoquine, ultrarapid metabolism of; Sparteine, poor metabolism of; Nortriptyline, poor metabolism of; Codeine, ultrarapid metabolism of;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytochrome P450, subfamily IID6 gene (CYP2D6, 124030.0001);

Neoplasia : Statistical association of extensive metabolism (EM, wildtype) and malignancy, especially smoking-induced lung cancer;

Laboratory abnormalities : PMs show deficient oxidation of debrisoquine; PMs show decreased levels of hepatic CYP2D6 enzyme; PMs have increased metabolic ratio of unchanged drug-to-metabolite in urine; PMs excrete 10 to 200 times less metabolite in urine than wildtype (EM);

Prefixed ID : #608902;

Details

Origin ID

608902;

UMLS CUI

C1837154;

Currated CISMeF NLP mapping
- drug metabolism, poor, CYP2D6-Related [MeSH concept]
- drug metabolism, poor, CYP2D6-Related [MeSH Supplementary Concept]
Genes related to phenotype
- Cytochrome p450, subfamily iid, polypeptide 6 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Neoplasm [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- drug metabolism, poor, CYP2D6-Related [MeSH Supplementary Concept]
- drug metabolism, poor, CYP2D6-Related [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients