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Abnormal drug response

MedGen UID:
1690735
Concept ID:
C5209254
Finding
HPO: HP:0020169

Definition

An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy. [from HPO]

Conditions with this feature

DRUG METABOLISM, ALTERED, CES1-RELATED
MedGen UID:
1648492
Concept ID:
C4748035
Finding
Carboxylesterase-1 (114835) is a widely expressed serine esterase that is involved in the hydrolysis of multiple amide-containing and ester-containing endogenous and xenobiotic compounds including therapeutic agents such as methylphenidate, oseltamivir, angiotensin-converting enzyme inhibitors (e.g., trandolapril and temocapril), and anticancer drugs (e.g., capecitabin). In addition, CES1 is the primary enzyme responsible for metabolizing clopidogrel and its derivatives (summary by Lewis et al., 2013).

Professional guidelines

PubMed

Muratori L, Lohse AW, Lenzi M
BMJ 2023 Feb 6;380:e070201. doi: 10.1136/bmj-2022-070201. PMID: 36746473
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Hiemke C, Bergemann N, Clement HW, Conca A, Deckert J, Domschke K, Eckermann G, Egberts K, Gerlach M, Greiner C, Gründer G, Haen E, Havemann-Reinecke U, Hefner G, Helmer R, Janssen G, Jaquenoud E, Laux G, Messer T, Mössner R, Müller MJ, Paulzen M, Pfuhlmann B, Riederer P, Saria A, Schoppek B, Schoretsanitis G, Schwarz M, Gracia MS, Stegmann B, Steimer W, Stingl JC, Uhr M, Ulrich S, Unterecker S, Waschgler R, Zernig G, Zurek G, Baumann P
Pharmacopsychiatry 2018 Jan;51(1-02):9-62. Epub 2017 Sep 14 doi: 10.1055/s-0043-116492. PMID: 28910830

Recent clinical studies

Etiology

Chen M, Miao H, Liang H, Ke X, Yang H, Gong F, Wang L, Duan L, Chen S, Pan H, Zhu H
Front Endocrinol (Lausanne) 2022;13:820001. Epub 2022 Feb 16 doi: 10.3389/fendo.2022.820001. PMID: 35250876Free PMC Article
Keddie S, Lunn MP
Curr Opin Neurol 2018 Oct;31(5):551-558. doi: 10.1097/WCO.0000000000000610. PMID: 30138145
Tomson T, Battino D, Bonizzoni E, Craig J, Lindhout D, Perucca E, Sabers A, Thomas SV, Vajda F; EURAP Study Group
Lancet Neurol 2018 Jun;17(6):530-538. Epub 2018 Apr 18 doi: 10.1016/S1474-4422(18)30107-8. PMID: 29680205
El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284
Weston J, Bromley R, Jackson CF, Adab N, Clayton-Smith J, Greenhalgh J, Hounsome J, McKay AJ, Tudur Smith C, Marson AG
Cochrane Database Syst Rev 2016 Nov 7;11(11):CD010224. doi: 10.1002/14651858.CD010224.pub2. PMID: 27819746Free PMC Article

Diagnosis

Miyamoto D, Gordilho JO, Santi CG, Porro AM
An Bras Dermatol 2022 Jul-Aug;97(4):409-423. Epub 2022 Jun 11 doi: 10.1016/j.abd.2021.09.010. PMID: 35701269Free PMC Article
Chen M, Miao H, Liang H, Ke X, Yang H, Gong F, Wang L, Duan L, Chen S, Pan H, Zhu H
Front Endocrinol (Lausanne) 2022;13:820001. Epub 2022 Feb 16 doi: 10.3389/fendo.2022.820001. PMID: 35250876Free PMC Article
Keddie S, Lunn MP
Curr Opin Neurol 2018 Oct;31(5):551-558. doi: 10.1097/WCO.0000000000000610. PMID: 30138145
Weeke PE
Adv Pharmacol 2018;83:333-360. doi: 10.1016/bs.apha.2018.04.002. PMID: 29801582
El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284

Therapy

Persico AM, Ricciardello A, Lamberti M, Turriziani L, Cucinotta F, Brogna C, Vitiello B, Arango C
Prog Neuropsychopharmacol Biol Psychiatry 2021 Aug 30;110:110326. Epub 2021 Apr 20 doi: 10.1016/j.pnpbp.2021.110326. PMID: 33857522
Acosta A, Camilleri M, Abu Dayyeh B, Calderon G, Gonzalez D, McRae A, Rossini W, Singh S, Burton D, Clark MM
Obesity (Silver Spring) 2021 Apr;29(4):662-671. doi: 10.1002/oby.23120. PMID: 33759389Free PMC Article
Hefti E, Blanco JG
Pharmacotherapy 2017 Feb;37(2):214-220. Epub 2017 Jan 13 doi: 10.1002/phar.1880. PMID: 27931082Free PMC Article
Weston J, Bromley R, Jackson CF, Adab N, Clayton-Smith J, Greenhalgh J, Hounsome J, McKay AJ, Tudur Smith C, Marson AG
Cochrane Database Syst Rev 2016 Nov 7;11(11):CD010224. doi: 10.1002/14651858.CD010224.pub2. PMID: 27819746Free PMC Article
Mansfield MJ, Emans SJ
J Reprod Med 1984 Jun;29(6):399-410. PMID: 6379175

Prognosis

Tomson T, Battino D, Bonizzoni E, Craig J, Lindhout D, Perucca E, Sabers A, Thomas SV, Vajda F; EURAP Study Group
Lancet Neurol 2018 Jun;17(6):530-538. Epub 2018 Apr 18 doi: 10.1016/S1474-4422(18)30107-8. PMID: 29680205
El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284
Andrews J, Nadjm B, Gant V, Shetty N
Curr Opin Pulm Med 2003 May;9(3):175-80. doi: 10.1097/00063198-200305000-00004. PMID: 12682561
Soprano DR, Soprano KJ
Annu Rev Nutr 1995;15:111-32. doi: 10.1146/annurev.nu.15.070195.000551. PMID: 8527214
So EL, Penry JK
Ann Neurol 1981 Jan;9(1):3-16. doi: 10.1002/ana.410090103. PMID: 7011170

Clinical prediction guides

Frémond ML, Hully M, Fournier B, Barrois R, Lévy R, Aubart M, Castelle M, Chabalier D, Gins C, Sarda E, Al Adba B, Couderc S, D' Almeida C, Berat CM, Durrleman C, Espil C, Lambert L, Méni C, Périvier M, Pillet P, Polivka L, Schiff M, Todosi C, Uettwiller F, Lepelley A, Rice GI, Seabra L, Sanquer S, Hulin A, Pressiat C, Goldwirt L, Bondet V, Duffy D, Moshous D, Bader-Meunier B, Bodemer C, Robin-Renaldo F, Boddaert N, Blanche S, Desguerre I, Crow YJ, Neven B
J Clin Immunol 2023 Aug;43(6):1436-1447. Epub 2023 May 12 doi: 10.1007/s10875-023-01500-z. PMID: 37171742Free PMC Article
Balestrini S, Barba C, Thom M, Guerrini R
Pract Neurol 2023 Aug;23(4):293-302. Epub 2023 Feb 23 doi: 10.1136/pn-2022-003404. PMID: 36823117
Fallah J, Brave MH, Weinstock C, Mehta GU, Bradford D, Gittleman H, Bloomquist EW, Charlab R, Hamed SS, Miller CP, Dorff SE, Chambers WA, Mixter BD, Dinin J, Pierce WF, Ricks TK, Tang S, Donoghue M, Pazdur R, Amiri-Kordestani L, Ibrahim A, Beaver JA
Clin Cancer Res 2022 Nov 14;28(22):4843-4848. doi: 10.1158/1078-0432.CCR-22-1054. PMID: 35727604Free PMC Article
Keddie S, Lunn MP
Curr Opin Neurol 2018 Oct;31(5):551-558. doi: 10.1097/WCO.0000000000000610. PMID: 30138145
Weston J, Bromley R, Jackson CF, Adab N, Clayton-Smith J, Greenhalgh J, Hounsome J, McKay AJ, Tudur Smith C, Marson AG
Cochrane Database Syst Rev 2016 Nov 7;11(11):CD010224. doi: 10.1002/14651858.CD010224.pub2. PMID: 27819746Free PMC Article

Recent systematic reviews

Rahman A, Hossen MA, Chowdhury MFI, Bari S, Tamanna N, Sultana SS, Haque SN, Al Masud A, Saif-Ur-Rahman KM
Psychogeriatrics 2023 May;23(3):512-522. Epub 2023 Feb 12 doi: 10.1111/psyg.12944. PMID: 36775284
Behrangi E, Barough MS, Khoramdad M, Hejazi P, Koltapeh MP, Goodarzi A
J Cosmet Dermatol 2022 Dec;21(12):6644-6652. Epub 2022 Oct 24 doi: 10.1111/jocd.15425. PMID: 36177815
Payne LE, Gagnon DJ, Riker RR, Seder DB, Glisic EK, Morris JG, Fraser GL
Crit Care 2017 Nov 14;21(1):276. doi: 10.1186/s13054-017-1856-1. PMID: 29137682Free PMC Article
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA
J Inherit Metab Dis 2017 Jan;40(1):49-74. Epub 2016 Oct 24 doi: 10.1007/s10545-016-9979-0. PMID: 27778219Free PMC Article
Pandolfino JE, Gawron AJ
JAMA 2015 May 12;313(18):1841-52. doi: 10.1001/jama.2015.2996. PMID: 25965233

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