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Links from Gene

Thyrotoxic periodic paralysis, susceptibility to, 2(TTPP2)

MedGen UID:
413851
Concept ID:
C2750473
Finding
Synonym: Thyrotoxic periodic paralysis 2
 
KCNJ18 (17p11.2)
 
Monarch Initiative: MONDO:0013193
OMIM®: 613239

Definition

Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene. [from MONDO]

Clinical features

From HPO

Recent clinical studies

Etiology

Hoi-Yee Li G, Cheung CL, Zhao SX, Song HD, Wai-Chee Kung A
Eur J Endocrinol 2020 Dec;183(6):607-617. doi: 10.1530/EJE-20-0523. PMID: 33105104
Sangkuhl K, Dirksen RT, Alvarellos ML, Altman RB, Klein TE
Pharmacogenet Genomics 2020 Feb;30(2):34-44. doi: 10.1097/FPC.0000000000000393. PMID: 31851124Free PMC Article
Zhao SX, Liu W, Liang J, Gao GQ, Zhang XM, Yao Y, Wang HN, Yuan FF, Xue LQ, Ma YR, Zhang LL, Ye XP, Zhang QY, Sun F, Zhang RJ, Yang SY, Zhan M, Du WH, Liu BL, Chen X, Song ZY, Li XS, Li P, Ru Y, Zuo CL, Li SX, Han B, Zhu H, Qiao J, Xuan M, Su B, Sun F, Ma JH, Chen JL, Tian HM, Chen SJ, Song HD; China Consortium for the Genetics of Autoimmune Thyroid Disease
JAMA Netw Open 2019 May 3;2(5):e193348. doi: 10.1001/jamanetworkopen.2019.3348. PMID: 31050781Free PMC Article
Fialho D, Griggs RC, Matthews E
Handb Clin Neurol 2018;148:505-520. doi: 10.1016/B978-0-444-64076-5.00032-6. PMID: 29478596
Song IW, Sung CC, Chen CH, Cheng CJ, Yang SS, Chou YC, Yang JH, Chen YT, Wu JY, Lin SH
Neurology 2016 Mar 29;86(13):1190-8. Epub 2016 Mar 2 doi: 10.1212/WNL.0000000000002524. PMID: 26935888

Diagnosis

Rasheed E, Seheult J, Gibney J, Boran G
Ann Clin Biochem 2018 Nov;55(6):713-716. Epub 2018 Jul 20 doi: 10.1177/0004563218785395. PMID: 29886759
Song IW, Sung CC, Chen CH, Cheng CJ, Yang SS, Chou YC, Yang JH, Chen YT, Wu JY, Lin SH
Neurology 2016 Mar 29;86(13):1190-8. Epub 2016 Mar 2 doi: 10.1212/WNL.0000000000002524. PMID: 26935888
Rolim AL, Lindsey SC, Kunii IS, Crispim F, Moisés RC, Maciel RM, Dias-da-Silva MR
J Mol Endocrinol 2014 Oct;53(2):295-301. Epub 2014 Aug 20 doi: 10.1530/JME-14-0083. PMID: 25143473
Díaz-Manera J, Querol L, Alejaldre A, Rojas-García R, Ramos-Fransi A, Gallardo E, Illa I
J Hum Genet 2014 Aug;59(8):465-6. Epub 2014 May 22 doi: 10.1038/jhg.2014.43. PMID: 24849934
Jongjaroenprasert W, Phusantisampan T, Mahasirimongkol S, Mushiroda T, Hirankarn N, Snabboon T, Chanprasertyotin S, Tantiwong P, Soonthornpun S, Rattanapichart P, Mamanasiri S, Himathongkam T, Ongphiphadhanakul B, Takahashi A, Kamatani N, Kubo M, Nakamura Y
J Hum Genet 2012 May;57(5):301-4. Epub 2012 Mar 8 doi: 10.1038/jhg.2012.20. PMID: 22399142

Therapy

Park S, Kim TY, Sim S, Oh HS, Song E, Kim M, Kwon H, Choi YM, Jeon MJ, Kim WG, Shong YK, Kim WB
Exp Clin Endocrinol Diabetes 2017 Feb;125(2):75-78. Epub 2016 Dec 22 doi: 10.1055/s-0042-119527. PMID: 28008586
Dias Da Silva MR, Cerutti JM, Arnaldi LA, Maciel RM
J Clin Endocrinol Metab 2002 Nov;87(11):4881-4. doi: 10.1210/jc.2002-020698. PMID: 12414843

Prognosis

Zhao SX, Liu W, Liang J, Gao GQ, Zhang XM, Yao Y, Wang HN, Yuan FF, Xue LQ, Ma YR, Zhang LL, Ye XP, Zhang QY, Sun F, Zhang RJ, Yang SY, Zhan M, Du WH, Liu BL, Chen X, Song ZY, Li XS, Li P, Ru Y, Zuo CL, Li SX, Han B, Zhu H, Qiao J, Xuan M, Su B, Sun F, Ma JH, Chen JL, Tian HM, Chen SJ, Song HD; China Consortium for the Genetics of Autoimmune Thyroid Disease
JAMA Netw Open 2019 May 3;2(5):e193348. doi: 10.1001/jamanetworkopen.2019.3348. PMID: 31050781Free PMC Article
Fan C, Kuhn M, Mbiol AP, Groome J, Winston V, Biskup S, Lehmann-Horn F, Jurkat-Rott K
Acta Myol 2018 Sep;37(3):193-203. Epub 2018 Sep 1 PMID: 30838349Free PMC Article

Clinical prediction guides

Hoi-Yee Li G, Cheung CL, Zhao SX, Song HD, Wai-Chee Kung A
Eur J Endocrinol 2020 Dec;183(6):607-617. doi: 10.1530/EJE-20-0523. PMID: 33105104
Zhao SX, Liu W, Liang J, Gao GQ, Zhang XM, Yao Y, Wang HN, Yuan FF, Xue LQ, Ma YR, Zhang LL, Ye XP, Zhang QY, Sun F, Zhang RJ, Yang SY, Zhan M, Du WH, Liu BL, Chen X, Song ZY, Li XS, Li P, Ru Y, Zuo CL, Li SX, Han B, Zhu H, Qiao J, Xuan M, Su B, Sun F, Ma JH, Chen JL, Tian HM, Chen SJ, Song HD; China Consortium for the Genetics of Autoimmune Thyroid Disease
JAMA Netw Open 2019 May 3;2(5):e193348. doi: 10.1001/jamanetworkopen.2019.3348. PMID: 31050781Free PMC Article
Fan C, Kuhn M, Mbiol AP, Groome J, Winston V, Biskup S, Lehmann-Horn F, Jurkat-Rott K
Acta Myol 2018 Sep;37(3):193-203. Epub 2018 Sep 1 PMID: 30838349Free PMC Article
Rolim AL, Lindsey SC, Kunii IS, Crispim F, Moisés RC, Maciel RM, Dias-da-Silva MR
J Mol Endocrinol 2014 Oct;53(2):295-301. Epub 2014 Aug 20 doi: 10.1530/JME-14-0083. PMID: 25143473
Jongjaroenprasert W, Chanprasertyotin S, Butadej S, Nakasatien S, Charatcharoenwitthaya N, Himathongkam T, Ongphiphadhanakul B
Clin Endocrinol (Oxf) 2008 Apr;68(4):646-51. Epub 2007 Oct 29 doi: 10.1111/j.1365-2265.2007.03083.x. PMID: 17970773

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