DRUG METABOLISM, POOR, CYP2D6-RELATEDDRUG METABOLISM, ULTRARAPID, CYP2D6-RELATED, INCLUDED

General Information (adopted from Orphanet):

Synonyms, Signs: NORTRIPTYLINE, POOR METABOLISM OF, INCLUDED
CODEINE, ULTRARAPID METABOLISM OF, INCLUDED
DEBRISOQUINE, POOR METABOLISM OF, INCLUDED
DEBRISOQUINE, ULTRARAPID METABOLISM OF, INCLUDED
SPARTEINE, POOR METABOLISM OF, INCLUDED
Number of Symptoms 11
OrphanetNr:
OMIM Id: 608902
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
2
(HPO:0002664) Neoplasm 111 / 7739
3
(OMIM) PMs show impaired metabolism of debrisoquine and related drugs 1 / 7739
4
(OMIM) PMs have increased metabolic ratio of unchanged drug-to-metabolite in urine 1 / 7739
5
(OMIM) PMs show increased sensitivity to effects of medication 1 / 7739
6
(OMIM) PMs show deficient oxidation of debrisoquine 1 / 7739
7
(OMIM) Statistical association of extensive metabolism (EM, wildtype) and malignancy, especially smoking-induced lung cancer 1 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(OMIM) PMs excrete 10 to 200 times less metabolite in urine than wildtype (EM) 1 / 7739
10
(OMIM) PMs show decreased levels of hepatic CYP2D6 enzyme 1 / 7739
11
(OMIM) Association between poor metabolizers (PM) and Parkinson disease 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Debrisoquine is an adrenergic-blocking medication used for the treatment of hypertension. Oral legend has it that the poor metabolizer phenotype was discovered when the head of the pharmacology unit in England that was testing debrisoquine as an antihypertensive ...
Molecular genetics OMIM - Poor Metabolizers

In 20 individuals with poor metabolism of debrisoquine, Gough et al. (1990) identified a splice site mutation in the CYP2D6 gene (124030.0001), yielding a protein with no functional activity. This allele has been ...

Population genetics OMIM Evans et al. (1980) estimated the frequency of the poor hydroxylator phenotype to be about 9% in the United Kingdom, but it varies widely among ethnic groups, being about 1% in Arabs and 30% in Hong Kong Chinese ...