MCID: EFV001
MIFTS: 14

Efavirenz, Poor Metabolism of

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Efavirenz, Poor Metabolism of

MalaCards integrated aliases for Efavirenz, Poor Metabolism of:

Name: Efavirenz, Poor Metabolism of 58 13 41
Efavirenz Central Nervous System Toxicity, Susceptibility to 58
Efavirenz Central Nervous System Toxicity 58
Efavirenz Toxicity 60

Classifications:



External Ids:

OMIM 58 614546
Orphanet 60 ORPHA240869

Summaries for Efavirenz, Poor Metabolism of

OMIM : 58 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)

MalaCards based summary : Efavirenz, Poor Metabolism of, also known as efavirenz central nervous system toxicity, susceptibility to, is related to status epilepticus. 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

Diseases related to Efavirenz, Poor Metabolism of via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 status epilepticus 9.9

Symptoms & Phenotypes for Efavirenz, Poor Metabolism of

Clinical features from OMIM:

614546

Drugs & Therapeutics for Efavirenz, Poor Metabolism of

Search Clinical Trials , NIH Clinical Center for Efavirenz, Poor Metabolism of

Genetic Tests for Efavirenz, Poor Metabolism of

Anatomical Context for Efavirenz, Poor Metabolism of

Publications for Efavirenz, Poor Metabolism of

Articles related to Efavirenz, Poor Metabolism of:

# Title Authors Year
1
Novel CYP2B6 enzyme variants in a Rwandese population: functional characterization and assessment of in silico prediction tools. ( 23418033 )
2013
2
Influence of host genetic factors on efavirenz plasma and intracellular pharmacokinetics in HIV-1-infected patients. ( 20860463 )
2010
3
Substitution of nevirapine because of efavirenz toxicity in AIDS clinical trials group A5095. ( 20121419 )
2010
4
Haplotype structure of CYP2B6 and association with plasma efavirenz concentrations in a Chilean HIV cohort. ( 20639527 )
2010
5
Status epilepticus resulting from severe efavirenz toxicity in an HIV-infected patient. ( 18655316 )
2008
6
Pharmacogenetics of efavirenz and central nervous system side effects: an Adult AIDS Clinical Trials Group study. ( 15622315 )
2004
7
Homozygous CYP2B6 *6 (Q172H and K262R) correlates with high plasma efavirenz concentrations in HIV-1 patients treated with standard efavirenz-containing regimens. ( 15194512 )
2004

Variations for Efavirenz, Poor Metabolism of

ClinVar genetic disease variations for Efavirenz, Poor Metabolism of:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP2B6 NM_000767.5(CYP2B6): c.516G> T (p.Gln172His) single nucleotide variant drug response rs3745274 GRCh37 Chromosome 19, 41512841: 41512841
2 CYP2B6 NM_000767.5(CYP2B6): c.516G> T (p.Gln172His) single nucleotide variant drug response rs3745274 GRCh38 Chromosome 19, 41006936: 41006936
3 CYP2B6 NM_000767.5(CYP2B6): c.785A> G (p.Lys262Arg) single nucleotide variant drug response rs2279343 GRCh38 Chromosome 19, 41009358: 41009358
4 CYP2B6 NM_000767.5(CYP2B6): c.785A> G (p.Lys262Arg) single nucleotide variant drug response rs2279343 GRCh37 Chromosome 19, 41515263: 41515263
5 CYP2B6 NM_000767.5(CYP2B6): c.329G> T (p.Gly110Val) single nucleotide variant drug response rs186335453 GRCh38 Chromosome 19, 41004158: 41004158
6 CYP2B6 NM_000767.5(CYP2B6): c.329G> T (p.Gly110Val) single nucleotide variant drug response rs186335453 GRCh37 Chromosome 19, 41510063: 41510063
7 CYP2B6 NM_000767.5(CYP2B6): c.341T> C (p.Ile114Thr) single nucleotide variant drug response rs139801276 GRCh38 Chromosome 19, 41004303: 41004303
8 CYP2B6 NM_000767.5(CYP2B6): c.341T> C (p.Ile114Thr) single nucleotide variant drug response rs139801276 GRCh37 Chromosome 19, 41510208: 41510208
9 CYP2B6 NM_000767.5(CYP2B6): c.548T> G (p.Val183Gly) single nucleotide variant drug response rs373489637 GRCh38 Chromosome 19, 41006968: 41006968
10 CYP2B6 NM_000767.5(CYP2B6): c.548T> G (p.Val183Gly) single nucleotide variant drug response rs373489637 GRCh37 Chromosome 19, 41512873: 41512873
11 CYP2B6 NM_000767.5(CYP2B6): c.637T> C (p.Phe213Leu) single nucleotide variant drug response rs371424910 GRCh38 Chromosome 19, 41007057: 41007057
12 CYP2B6 NM_000767.5(CYP2B6): c.637T> C (p.Phe213Leu) single nucleotide variant drug response rs371424910 GRCh37 Chromosome 19, 41512962: 41512962
13 CYP2B6 NM_000767.5(CYP2B6): c.186T> A (p.Tyr62Ter) single nucleotide variant drug response rs281864907 GRCh38 Chromosome 19, 41004015: 41004015
14 CYP2B6 NM_000767.5(CYP2B6): c.186T> A (p.Tyr62Ter) single nucleotide variant drug response rs281864907 GRCh37 Chromosome 19, 41509920: 41509920
15 CYP2B6 NM_000767.5(CYP2B6): c.1132C> T (p.Arg378Ter) single nucleotide variant drug response rs34097093 GRCh38 Chromosome 19, 41012465: 41012465
16 CYP2B6 NM_000767.5(CYP2B6): c.1132C> T (p.Arg378Ter) single nucleotide variant drug response rs34097093 GRCh37 Chromosome 19, 41518370: 41518370
17 CYP2B6 NM_000767.5(CYP2B6): c.593T> C (p.Met198Thr) single nucleotide variant drug response rs36079186 GRCh38 Chromosome 19, 41007013: 41007013
18 CYP2B6 NM_000767.5(CYP2B6): c.593T> C (p.Met198Thr) single nucleotide variant drug response rs36079186 GRCh37 Chromosome 19, 41512918: 41512918

Expression for Efavirenz, Poor Metabolism of

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