DRUG METABOLISM, POOR, CYP2C19-RELATEDMEPHENYTOIN, POOR METABOLISM OF, INCLUDED

General Information (adopted from Orphanet):

Synonyms, Signs: PROGUANIL, POOR METABOLISM OF, INCLUDED
OPREMAZOLE, POOR METABOLISM OF, INCLUDED
CLOPIDOGREL, POOR METABOLISM OF, INCLUDED
Number of Symptoms 3
OrphanetNr:
OMIM Id: 609535
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:0000007) Autosomal recessive inheritance 2538 / 7739
2
(OMIM) Hydantoin toxicity 1 / 7739
3
(OMIM) Mephenytoin hydroxylation defect 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The antiepileptic drug mephenytoin is a racemate. Mephenytoin hydroxylation is a stereospecific reaction and is confined to the S-enantiomer, which is normally eliminated within hours. The R-enantiomer accumulates, requiring days or weeks for elimination. The inborn deficiency of ...
Molecular genetics OMIM The metabolism of the anticonvulsant mephenytoin is subject to a genetic polymorphism. In 2 to 5% of Caucasians and 18 to 23% of Japanese subjects, the specific cytochrome P-450 isozyme, mephenytoin 4-prime-hydroxylase, is functionally deficient or missing. Meier ...
Population genetics OMIM Kalow (1986) stated that the frequency of poor mephenytoin metabolizers was about 5% among 459 Canadians of European extraction. The poor metabolizer phenotype occurred in 7 of 31 Japanese-Canadians and 2 of 39 Chinese-Canadians.

Wood (2001) ...