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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

Lefferdink R, Rangel SM, Chima M, Ibler E, Pavel AB, Kim H, Wu B, Abu-Zayed H, Wu J, Jackson K, Singer G, Choate KA, Guttman-Yassky E, Paller AS
Arch Dermatol Res 2023 Mar;315(2):305-315. Epub 2022 Feb 26 doi: 10.1007/s00403-022-02325-3. PMID: 35218370Free 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

Christensen J, Trabjerg BB, Dreier JW
JAMA Netw Open 2024 Jun 3;7(6):e2414709. doi: 10.1001/jamanetworkopen.2024.14709. PMID: 38833248Free PMC Article
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
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

Christensen J, Trabjerg BB, Dreier JW
JAMA Netw Open 2024 Jun 3;7(6):e2414709. doi: 10.1001/jamanetworkopen.2024.14709. PMID: 38833248Free PMC Article
Lefferdink R, Rangel SM, Chima M, Ibler E, Pavel AB, Kim H, Wu B, Abu-Zayed H, Wu J, Jackson K, Singer G, Choate KA, Guttman-Yassky E, Paller AS
Arch Dermatol Res 2023 Mar;315(2):305-315. Epub 2022 Feb 26 doi: 10.1007/s00403-022-02325-3. PMID: 35218370Free PMC Article
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
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

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
Jain V, Agarwal R, Deorari AK, Paul VK
Indian J Pediatr 2008 Apr;75(4):363-7. Epub 2008 May 18 doi: 10.1007/s12098-008-0040-7. PMID: 18536892
Kulkarni ML, Balaji MD, Kulkarni AM, Sushanth S, Kulkarni BM
Indian J Pediatr 2007 Dec;74(12):1113-5. doi: 10.1007/s12098-007-0209-5. PMID: 18174649
Soprano DR, Soprano KJ
Annu Rev Nutr 1995;15:111-32. doi: 10.1146/annurev.nu.15.070195.000551. PMID: 8527214

Clinical prediction guides

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
Lefferdink R, Rangel SM, Chima M, Ibler E, Pavel AB, Kim H, Wu B, Abu-Zayed H, Wu J, Jackson K, Singer G, Choate KA, Guttman-Yassky E, Paller AS
Arch Dermatol Res 2023 Mar;315(2):305-315. Epub 2022 Feb 26 doi: 10.1007/s00403-022-02325-3. PMID: 35218370Free PMC Article
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

Franciosi JP, Gordon M, Sinopoulou V, Dellon ES, Gupta SK, Reed CC, Gutiérrez-Junquera C, Venkatesh RD, Erwin EA, Egiz A, Elleithy A, Mougey EB
Cochrane Database Syst Rev 2023 Jul 20;7(7):CD004065. doi: 10.1002/14651858.CD004065.pub4. PMID: 37470293Free PMC Article
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
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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