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Thyrotoxic periodic paralysis, susceptibility to, 2(TTPP2)

MedGen UID:
413851
Concept ID:
C2750473
Finding
Synonym: Thyrotoxic periodic paralysis 2
 
Gene (location): 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
Tachycardia
MedGen UID:
21453
Concept ID:
C0039231
Finding
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
Weight loss
MedGen UID:
853198
Concept ID:
C1262477
Finding
Reduction of total body weight.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Periodic paralysis
MedGen UID:
488958
Concept ID:
C1279412
Disease or Syndrome
Episodes of muscle weakness.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Goiter
MedGen UID:
42270
Concept ID:
C0018021
Disease or Syndrome
An enlargement of the thyroid gland.
Hyperthyroidism
MedGen UID:
6972
Concept ID:
C0020550
Disease or Syndrome
An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
Decreased thyroid-stimulating hormone level
MedGen UID:
717708
Concept ID:
C1295607
Finding
Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.
Increased circulating T4 concentration
MedGen UID:
1619052
Concept ID:
C4531079
Finding
An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).
Increased circulating free T4 concentration
MedGen UID:
1771990
Concept ID:
C5421591
Finding
An elevated concentration of free thyroxine (fT4) in the blood circulation.

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
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

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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