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CYP2C19-related poor drug metabolism

MedGen UID:
322801
Concept ID:
C1836023
Disease or Syndrome
Synonyms: Drug Metabolism, Poor, CYP2C19-Related
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): CYP2C19 (10q23.33)
OMIM®: 609535

Professional guidelines

PubMed

Scott SA, Sangkuhl K, Gardner EE, Stein CM, Hulot JS, Johnson JA, Roden DM, Klein TE, Shuldiner AR; Clinical Pharmacogenetics Implementation Consortium.
Clin Pharmacol Ther 2011 Aug;90(2):328-32. Epub 2011 Jun 29 doi: 10.1038/clpt.2011.132. PMID: 21716271Free PMC Article

Recent clinical studies

Etiology

Horai Y, Kimura M, Furuie H, Matsuguma K, Irie S, Koga Y, Nagahama T, Murakami M, Matsui T, Yao T, Urae A, Ishizaki T
Aliment Pharmacol Ther 2001 Jun;15(6):793-803. PMID: 11380317
Koyama E, Tanaka T, Chiba K, Kawakatsu S, Morinobu S, Totsuka S, Ishizaki T
J Clin Psychopharmacol 1996 Aug;16(4):286-93. PMID: 8835703

Therapy

Altar CA, Carhart JM, Allen JD, Hall-Flavin DK, Dechairo BM, Winner JG
Pharmacogenomics J 2015 Oct;15(5):443-51. Epub 2015 Feb 17 doi: 10.1038/tpj.2014.85. PMID: 25686762
Burns KE, Goldthorpe MA, Porteus F, Browett P, Helsby NA
Cancer Chemother Pharmacol 2014 Mar;73(3):651-5. Epub 2014 Feb 12 doi: 10.1007/s00280-014-2409-9. PMID: 24519754
Horai Y, Kimura M, Furuie H, Matsuguma K, Irie S, Koga Y, Nagahama T, Murakami M, Matsui T, Yao T, Urae A, Ishizaki T
Aliment Pharmacol Ther 2001 Jun;15(6):793-803. PMID: 11380317
Kaneko A, Bergqvist Y, Taleo G, Kobayakawa T, Ishizaki T, Björkman A
Pharmacogenetics 1999 Jun;9(3):317-26. PMID: 10471063
Kaneko A, Bergqvist Y, Takechi M, Kalkoa M, Kaneko O, Kobayakawa T, Ishizaki T, Björkman A
J Infect Dis 1999 Apr;179(4):974-9. doi: 10.1086/314683. PMID: 10068594

Prognosis

Altar CA, Carhart JM, Allen JD, Hall-Flavin DK, Dechairo BM, Winner JG
Pharmacogenomics J 2015 Oct;15(5):443-51. Epub 2015 Feb 17 doi: 10.1038/tpj.2014.85. PMID: 25686762
Burns KE, Goldthorpe MA, Porteus F, Browett P, Helsby NA
Cancer Chemother Pharmacol 2014 Mar;73(3):651-5. Epub 2014 Feb 12 doi: 10.1007/s00280-014-2409-9. PMID: 24519754
Kaneko A, Lum JK, Yaviong L, Takahashi N, Ishizaki T, Bertilsson L, Kobayakawa T, Björkman A
Pharmacogenetics 1999 Oct;9(5):581-90. PMID: 10591538

Clinical prediction guides

Altar CA, Carhart JM, Allen JD, Hall-Flavin DK, Dechairo BM, Winner JG
Pharmacogenomics J 2015 Oct;15(5):443-51. Epub 2015 Feb 17 doi: 10.1038/tpj.2014.85. PMID: 25686762
Burns KE, Goldthorpe MA, Porteus F, Browett P, Helsby NA
Cancer Chemother Pharmacol 2014 Mar;73(3):651-5. Epub 2014 Feb 12 doi: 10.1007/s00280-014-2409-9. PMID: 24519754
Lewis JP, Stephens SH, Horenstein RB, O'Connell JR, Ryan K, Peer CJ, Figg WD, Spencer SD, Pacanowski MA, Mitchell BD, Shuldiner AR
J Thromb Haemost 2013 Sep;11(9):1640-6. doi: 10.1111/jth.12342. PMID: 23809542Free PMC Article
Kaneko A, Lum JK, Yaviong L, Takahashi N, Ishizaki T, Bertilsson L, Kobayakawa T, Björkman A
Pharmacogenetics 1999 Oct;9(5):581-90. PMID: 10591538
Kaneko A, Bergqvist Y, Takechi M, Kalkoa M, Kaneko O, Kobayakawa T, Ishizaki T, Björkman A
J Infect Dis 1999 Apr;179(4):974-9. doi: 10.1086/314683. PMID: 10068594

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