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Dual Oxidase 2 Deficiency

MedGen UID:
887085
Concept ID:
C4055115
Disease or Syndrome

Definition

Thyroid peroxidase system defect due to presumed mutation(s) in the DUOX2 gene, resulting in decreased activity of dual oxidase 2. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDual Oxidase 2 Deficiency

Professional guidelines

PubMed

Zhou D, Yang R, Huang X, Huang X, Yang X, Mao H, Yang J, Zhao Z
Zhejiang Da Xue Xue Bao Yi Xue Ban 2023 Dec 16;52(6):683-692. doi: 10.3724/zdxbyxb-2023-0473. PMID: 38105685Free PMC Article

Recent clinical studies

Etiology

Sugisawa C, Narumi S, Tanase-Nakao K, Hoshiyama A, Suzuki N, Ohye H, Fukushita M, Matsumoto M, Yoshihara A, Watanabe N, Sugino K, Hishinuma A, Noh JY, Katoh R, Taniyama M, Ito K
Thyroid 2023 May;33(5):556-565. Epub 2023 Apr 21 doi: 10.1089/thy.2022.0481. PMID: 36792927
Kim HJ, Seo YH, An S, Jo A, Kwon IC, Kim S
Theranostics 2018;8(7):1798-1807. Epub 2018 Feb 12 doi: 10.7150/thno.22481. PMID: 29556357Free PMC Article
Ma L, Huang C, Wang XJ, Xin DE, Wang LS, Zou QC, Zhang YS, Tan MD, Wang YM, Zhao TC, Chatterjee D, Altura RA, Wang C, Xu YS, Yang JH, Fan YS, Han BH, Si J, Zhang X, Cheng J, Chang Z, Chin YE
Mol Cell 2017 Jan 19;65(2):296-309. Epub 2017 Jan 5 doi: 10.1016/j.molcel.2016.12.002. PMID: 28065600
Salerno M, Capalbo D, Cerbone M, De Luca F
Nat Rev Endocrinol 2016 Dec;12(12):734-746. Epub 2016 Jul 1 doi: 10.1038/nrendo.2016.100. PMID: 27364598
O'Neill S, Brault J, Stasia MJ, Knaus UG
Redox Biol 2015 Dec;6:135-156. Epub 2015 Jul 17 doi: 10.1016/j.redox.2015.07.009. PMID: 26210446Free PMC Article

Diagnosis

Sugisawa C, Narumi S, Tanase-Nakao K, Hoshiyama A, Suzuki N, Ohye H, Fukushita M, Matsumoto M, Yoshihara A, Watanabe N, Sugino K, Hishinuma A, Noh JY, Katoh R, Taniyama M, Ito K
Thyroid 2023 May;33(5):556-565. Epub 2023 Apr 21 doi: 10.1089/thy.2022.0481. PMID: 36792927
Peters C, Schoenmakers N
Eur J Endocrinol 2022 Jun 20;187(2):R1-R16. doi: 10.1530/EJE-21-1278. PMID: 35588090Free PMC Article
Subramaniam K
J Postgrad Med 2021 Oct-Dec;67(4):238-240. doi: 10.4103/jpgm.JPGM_1308_20. PMID: 34341225Free PMC Article
De Deken X, Miot F
Methods Mol Biol 2019;1982:667-693. doi: 10.1007/978-1-4939-9424-3_37. PMID: 31172499
Kim HJ, Seo YH, An S, Jo A, Kwon IC, Kim S
Theranostics 2018;8(7):1798-1807. Epub 2018 Feb 12 doi: 10.7150/thno.22481. PMID: 29556357Free PMC Article

Therapy

Sugisawa C, Narumi S, Tanase-Nakao K, Hoshiyama A, Suzuki N, Ohye H, Fukushita M, Matsumoto M, Yoshihara A, Watanabe N, Sugino K, Hishinuma A, Noh JY, Katoh R, Taniyama M, Ito K
Thyroid 2023 May;33(5):556-565. Epub 2023 Apr 21 doi: 10.1089/thy.2022.0481. PMID: 36792927
NaveenKumar SK, Hemshekhar M, Jagadish S, Manikanta K, Vishalakshi GJ, Kemparaju K, Girish KS
J Pineal Res 2020 Oct;69(3):e12676. Epub 2020 Aug 18 doi: 10.1111/jpi.12676. PMID: 32597503
Dufort G, Larrivée-Vanier S, Eugène D, De Deken X, Seebauer B, Heinimann K, Lévesque S, Gravel S, Szinnai G, Van Vliet G, Deladoëy J
Thyroid 2019 Jul;29(7):1018-1022. Epub 2019 May 31 doi: 10.1089/thy.2018.0461. PMID: 31030636
Kim HJ, Seo YH, An S, Jo A, Kwon IC, Kim S
Theranostics 2018;8(7):1798-1807. Epub 2018 Feb 12 doi: 10.7150/thno.22481. PMID: 29556357Free PMC Article
Salerno M, Capalbo D, Cerbone M, De Luca F
Nat Rev Endocrinol 2016 Dec;12(12):734-746. Epub 2016 Jul 1 doi: 10.1038/nrendo.2016.100. PMID: 27364598

Prognosis

Gupta T, Sarr D, Fantone K, Ashtiwi NM, Sakamoto K, Quinn FD, Rada B
Front Immunol 2023;14:1044703. Epub 2023 Mar 3 doi: 10.3389/fimmu.2023.1044703. PMID: 36936954Free PMC Article
Peters C, Schoenmakers N
Eur J Endocrinol 2022 Jun 20;187(2):R1-R16. doi: 10.1530/EJE-21-1278. PMID: 35588090Free PMC Article
Bruellman RJ, Watanabe Y, Ebrhim RS, Creech MK, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE
J Clin Endocrinol Metab 2020 May 1;105(5):1564-72. doi: 10.1210/clinem/dgz297. PMID: 31867598Free PMC Article
Little AC, Hristova M, van Lith L, Schiffers C, Dustin CM, Habibovic A, Danyal K, Heppner DE, Lin MJ, van der Velden J, Janssen-Heininger YM, van der Vliet A
Sci Rep 2019 Mar 19;9(1):4844. doi: 10.1038/s41598-019-41395-8. PMID: 30890751Free PMC Article
O'Neill S, Brault J, Stasia MJ, Knaus UG
Redox Biol 2015 Dec;6:135-156. Epub 2015 Jul 17 doi: 10.1016/j.redox.2015.07.009. PMID: 26210446Free PMC Article

Clinical prediction guides

Sugisawa C, Narumi S, Tanase-Nakao K, Hoshiyama A, Suzuki N, Ohye H, Fukushita M, Matsumoto M, Yoshihara A, Watanabe N, Sugino K, Hishinuma A, Noh JY, Katoh R, Taniyama M, Ito K
Thyroid 2023 May;33(5):556-565. Epub 2023 Apr 21 doi: 10.1089/thy.2022.0481. PMID: 36792927
Peters C, Schoenmakers N
Eur J Endocrinol 2022 Jun 20;187(2):R1-R16. doi: 10.1530/EJE-21-1278. PMID: 35588090Free PMC Article
Bruellman RJ, Watanabe Y, Ebrhim RS, Creech MK, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE
J Clin Endocrinol Metab 2020 May 1;105(5):1564-72. doi: 10.1210/clinem/dgz297. PMID: 31867598Free PMC Article
De Deken X, Miot F
Methods Mol Biol 2019;1982:667-693. doi: 10.1007/978-1-4939-9424-3_37. PMID: 31172499
O'Neill S, Brault J, Stasia MJ, Knaus UG
Redox Biol 2015 Dec;6:135-156. Epub 2015 Jul 17 doi: 10.1016/j.redox.2015.07.009. PMID: 26210446Free PMC Article

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