MCID: EFV001
MIFTS: 14

Efavirenz, Poor Metabolism of

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Efavirenz, Poor Metabolism of

MalaCards integrated aliases for Efavirenz, Poor Metabolism of:

Name: Efavirenz, Poor Metabolism of 57 13 6 39
Efavirenz Central Nervous System Toxicity, Susceptibility to 57
Efavirenz Central Nervous System Toxicity 57

Classifications:



External Ids:

OMIM® 57 614546

Summaries for Efavirenz, Poor Metabolism of

OMIM® : 57 Highly active antiretroviral therapy (HAART) has reduced mortality associated with acquired immunodeficiency syndrome (AIDS; see 609423) by at least 70%. Efavirenz is a non-nucleoside reverse transcriptase inhibitor that is frequently prescribed with 2 nucleoside reverse transcriptase inhibitors as initial therapy for human immunodeficiency virus (HIV) infection. However, during the first weeks of therapy, up to half of patients who receive efavirenz experience CNS side effects, including dizziness, insomnia, impaired concentration, somnolence, and abnormal dreams. Severe depression, aggressive behavior, and paranoid or manic reactions may also occur, and such side effects may reflect varying efavirenz plasma concentrations. Plasma clearance of efavirenz appears slower in African Americans than in European Americans, and studies have suggested earlier virologic failure on efavirenz for both African Americans and Hispanics compared with European Americans. Efavirenz is metabolized primarily by hepatic CYP2B6, with some involvement of CYP3A (CYP3A4; 124010) (summary by Haas et al., 2004). (614546) (Updated 20-May-2021)

MalaCards based summary : Efavirenz, Poor Metabolism of, is also known as efavirenz central nervous system toxicity, susceptibility to. An important gene associated with Efavirenz, Poor Metabolism of is CYP2B6 (Cytochrome P450 Family 2 Subfamily B Member 6).

Related Diseases for Efavirenz, Poor Metabolism of

Symptoms & Phenotypes for Efavirenz, Poor Metabolism of

Clinical features from OMIM®:

614546 (Updated 20-May-2021)

Drugs & Therapeutics for Efavirenz, Poor Metabolism of

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Anatomical Context for Efavirenz, Poor Metabolism of

Publications for Efavirenz, Poor Metabolism of

Articles related to Efavirenz, Poor Metabolism of:

# Title Authors PMID Year
1
Influence of host genetic factors on efavirenz plasma and intracellular pharmacokinetics in HIV-1-infected patients. 57 6
20860463 2010
2
Haplotype structure of CYP2B6 and association with plasma efavirenz concentrations in a Chilean HIV cohort. 57 6
20639527 2010
3
Pharmacogenetics of efavirenz and central nervous system side effects: an Adult AIDS Clinical Trials Group study. 57 6
15622315 2004
4
Homozygous CYP2B6 *6 (Q172H and K262R) correlates with high plasma efavirenz concentrations in HIV-1 patients treated with standard efavirenz-containing regimens. 57 6
15194512 2004
5
Novel CYP2B6 enzyme variants in a Rwandese population: functional characterization and assessment of in silico prediction tools. 6
23418033 2013
6
Efavirenz intoxication due to a new CYP2B6 constellation. 6
23640958 2013
7
Predictive value of known and novel alleles of CYP2B6 for efavirenz plasma concentrations in HIV-infected individuals. 6
17235330 2007
8
Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers. 57
8432525 1993

Variations for Efavirenz, Poor Metabolism of

ClinVar genetic disease variations for Efavirenz, Poor Metabolism of:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP2B6 NM_000767.5(CYP2B6):c.329G>T (p.Gly110Val) SNV drug response 120172 rs186335453 GRCh37: 19:41510063-41510063
GRCh38: 19:41004158-41004158
2 CYP2B6 NM_000767.5(CYP2B6):c.341T>C (p.Ile114Thr) SNV drug response 120173 rs139801276 GRCh37: 19:41510208-41510208
GRCh38: 19:41004303-41004303
3 CYP2B6 NM_000767.5(CYP2B6):c.548T>G (p.Val183Gly) SNV drug response 120174 rs373489637 GRCh37: 19:41512873-41512873
GRCh38: 19:41006968-41006968
4 CYP2B6 NM_000767.5(CYP2B6):c.637T>C (p.Phe213Leu) SNV drug response 120175 rs371424910 GRCh37: 19:41512962-41512962
GRCh38: 19:41007057-41007057
5 CYP2B6 NM_000767.5(CYP2B6):c.186T>A (p.Tyr62Ter) SNV drug response 143910 rs281864907 GRCh37: 19:41509920-41509920
GRCh38: 19:41004015-41004015
6 CYP2B6 NM_000767.5(CYP2B6):c.1132C>T (p.Arg378Ter) SNV drug response 143911 rs34097093 GRCh37: 19:41518370-41518370
GRCh38: 19:41012465-41012465
7 CYP2B6 NM_000767.5(CYP2B6):c.593T>C (p.Met198Thr) SNV drug response 143912 rs36079186 GRCh37: 19:41512918-41512918
GRCh38: 19:41007013-41007013
8 CYP2B6 NM_000767.5(CYP2B6):c.516G>T (p.Gln172His) SNV drug response 29671 rs3745274 GRCh37: 19:41512841-41512841
GRCh38: 19:41006936-41006936
9 CYP2B6 NM_000767.5(CYP2B6):c.785A>G (p.Lys262Arg) SNV Benign 120171 rs2279343 GRCh37: 19:41515263-41515263
GRCh38: 19:41009358-41009358

Expression for Efavirenz, Poor Metabolism of

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GO Terms for Efavirenz, Poor Metabolism of

Sources for Efavirenz, Poor Metabolism of

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71 UMLS via Orphanet
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